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Síndrome de Robinow
ORPHA:97360CID-10 · Q87.1CID-11 · LD24.ADOENÇA RARA

A Síndrome de Robinow (SR) é uma síndrome genética rara caracterizada por encurtamento dos membros e alterações na cabeça, rosto e genitais externos.

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Introdução

O que você precisa saber de cara

📋

A Síndrome de Robinow (SR) é uma síndrome genética rara caracterizada por encurtamento dos membros e alterações na cabeça, rosto e genitais externos.

Publicações científicas
216 artigos
Último publicado: 2026 Feb 17

Escala de raridade

CLASSIFICAÇÃO ORPHANET · BRASIL 2024
Unknown
Ultra-rara
<1/50k
Muito rara
1/20k
Rara
1/10k
Pouco freq.
1/5k
Incomum
1/2k
Prevalência
0.0
Worldwide
Casos conhecidos
200
pacientes catalogados
Início
Infancy
+ neonatal
🏥
SUS: Cobertura mínimaScore: 15%
CID-10: Q87.1
🇧🇷Dados SUS / DATASUS
PROCEDIMENTOS SIGTAP (5)
0202010503
Cariótipo — bandas G, Q ou Rgenetic_test
0202010600
Pesquisa de microdeleções/microduplicações por FISHlab_test
0202010694
Sequenciamento completo do exoma (WES)rehabilitation
0202010260
Dosagem de alfa-fetoproteína
0301070040
Atendimento em reabilitação — doenças raras
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Sinais e sintomas

O que aparece no corpo e com que frequência cada sintoma acontece

Partes do corpo afetadas

🦴
Ossos e articulações
54 sintomas
😀
Face
29 sintomas
❤️
Coração
14 sintomas
🦷
Dentes
10 sintomas
👂
Ouvidos
8 sintomas
👁️
Olhos
6 sintomas

+ 82 sintomas em outras categorias

Características mais comuns

90%prev.
Baixa estatura
Muito frequente (99-80%)
90%prev.
Mesomelia
Muito frequente (99-80%)
55%prev.
Encurtamento mesomélico do braço
Frequente (79-30%)
55%prev.
Hipertelorismo
Frequente (79-30%)
55%prev.
Acromesomelia
Frequente (79-30%)
55%prev.
Hipoplasia genital externa
Frequente (79-30%)
230sintomas
Muito frequente (2)
Frequente (5)
Ocasional (51)
Muito raro (7)
Sem dados (165)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 230 características clínicas mais associadas, ordenadas por frequência.

Baixa estaturaShort stature
Muito frequente (99-80%)90%
Mesomelia
Muito frequente (99-80%)90%
Encurtamento mesomélico do braçoMesomelic arm shortening
Frequente (79-30%)55%
HipertelorismoHypertelorism
Frequente (79-30%)55%
Acromesomelia
Frequente (79-30%)55%

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2026
Total histórico216PubMed
Últimos 10 anos85publicações
Pico202113 papers
Linha do tempo
2026Hoje · 2026📈 2021Ano de pico
Publicações por ano (últimos 10 anos)

Encontrou um erro ou informação desatualizada? Sugira uma correção →

Genética e causas

O que está alterado no DNA e como passa nas famílias

Genes associados

6 genes identificados com associação a esta condição. Padrão de herança: Autosomal dominant, Autosomal recessive.

WNT5AProtein Wnt-5aDisease-causing germline mutation(s) inAltamente restrito
FUNÇÃO

Ligand for members of the frizzled family of seven transmembrane receptors. Can activate or inhibit canonical Wnt signaling, depending on receptor context. In the presence of FZD4, activates beta-catenin signaling. In the presence of ROR2, inhibits the canonical Wnt pathway by promoting beta-catenin degradation through a GSK3-independent pathway which involves down-regulation of beta-catenin-induced reporter gene expression (By similarity). Suppression of the canonical pathway allows chondrogene

LOCALIZAÇÃO

Secreted, extracellular space, extracellular matrixSecreted

VIAS BIOLÓGICAS (1)
Class B/2 (Secretin family receptors)
MECANISMO DE DOENÇA

Robinow syndrome, autosomal dominant 1

A disease characterized by short-limb dwarfism, costovertebral segmentation defects and abnormalities of the head, face and external genitalia. The clinical signs are generally milder in dominant cases.

EXPRESSÃO TECIDUAL(Ubíquo)
Fibroblastos
128.4 TPM
Esôfago - Mucosa
20.7 TPM
Útero
19.8 TPM
Vagina
19.5 TPM
Ovário
14.1 TPM
OUTRAS DOENÇAS (2)
autosomal dominant Robinow syndrome 1autosomal dominant Robinow syndrome
HGNC:12784UniProt:P41221
FZD2Frizzled-2Candidate gene tested inTolerante
FUNÇÃO

Receptor for Wnt proteins. Most of frizzled receptors are coupled to the beta-catenin canonical signaling pathway, which leads to the activation of disheveled proteins, inhibition of GSK-3 kinase, nuclear accumulation of beta-catenin and activation of Wnt target genes (PubMed:25759469). A second signaling pathway involving PKC and calcium fluxes has been seen for some family members, but it is not yet clear if it represents a distinct pathway or if it can be integrated in the canonical pathway,

LOCALIZAÇÃO

MembraneCell membrane

VIAS BIOLÓGICAS (6)
Ca2+ pathwayDisassembly of the destruction complex and recruitment of AXIN to the membraneTCF dependent signaling in response to WNTAsymmetric localization of PCP proteinsWNT5A-dependent internalization of FZD2, FZD5 and ROR2
MECANISMO DE DOENÇA

Omodysplasia 2

A rare autosomal dominant skeletal dysplasia characterized by short humeri, radial head dislocation, short first metacarpals, facial dysmorphism and genitourinary anomalies.

EXPRESSÃO TECIDUAL(Ubíquo)
Fibroblastos
33.7 TPM
Aorta
24.4 TPM
Nervo tibial
22.1 TPM
Cervix Ectocervix
12.7 TPM
Artéria coronária
12.4 TPM
OUTRAS DOENÇAS (2)
autosomal dominant omodysplasiaautosomal dominant Robinow syndrome
HGNC:4040UniProt:Q14332
ROR2Tyrosine-protein kinase transmembrane receptor ROR2Disease-causing germline mutation(s) inRestrito
FUNÇÃO

Tyrosine-protein kinase receptor which may be involved in the early formation of the chondrocytes. It seems to be required for cartilage and growth plate development (By similarity). Phosphorylates YWHAB, leading to induction of osteogenesis and bone formation (PubMed:17717073). In contrast, has also been shown to have very little tyrosine kinase activity in vitro. May act as a receptor for wnt ligand WNT5A which may result in the inhibition of WNT3A-mediated signaling (PubMed:25029443)

LOCALIZAÇÃO

Cell membrane

VIAS BIOLÓGICAS (2)
WNT5A-dependent internalization of FZD2, FZD5 and ROR2PCP/CE pathway
MECANISMO DE DOENÇA

Brachydactyly B1

A form of brachydactyly. Brachydactyly defines a group of inherited malformations characterized by shortening of the digits due to abnormal development of the phalanges and/or the metacarpals. In brachydactyly type B1 the middle phalanges are short but in addition the terminal phalanges are rudimentary or absent. Both fingers and toes are affected. The thumbs and big toes are usually deformed. Symphalangism is also a feature.

EXPRESSÃO TECIDUAL(Ubíquo)
Cólon sigmoide
49.8 TPM
Útero
43.4 TPM
Cervix Ectocervix
37.5 TPM
Cervix Endocervix
35.5 TPM
Esôfago - Junção
29.8 TPM
OUTRAS DOENÇAS (2)
autosomal recessive Robinow syndromebrachydactyly type B1
HGNC:10257UniProt:Q01974
NXNNucleoredoxinDisease-causing germline mutation(s) inAltamente restrito
FUNÇÃO

Functions as a redox-dependent negative regulator of the Wnt signaling pathway, possibly by preventing ubiquitination of DVL3 by the BCR(KLHL12) complex. May also function as a transcriptional regulator act as a regulator of protein phosphatase 2A (PP2A) (By similarity)

LOCALIZAÇÃO

Cytoplasm, cytosolNucleus

MECANISMO DE DOENÇA

Robinow syndrome, autosomal recessive 2

A recessive form of Robinow syndrome, a disease characterized by short-limb dwarfism, costovertebral segmentation defects and abnormalities of the head, face and external genitalia. The clinical signs are generally far more severe in recessive cases, particularly skeletal abnormalities. All patients with the recessive form suffer from vertebral segmentation abnormalities, resulting in scoliosis and chest deformities. Rib fusions are considered to be characteristic of the autosomal recessive form. Patients can also present brachydactyly, with extensive aplasia/hypoplasia of the phalanges and metacarpals/metatarsals, and brachy-syn-polydactyly of the hands and oligodactyly of the feet.

EXPRESSÃO TECIDUAL(Ubíquo)
Cólon sigmoide
83.7 TPM
Útero
71.5 TPM
Cervix Ectocervix
59.1 TPM
Vagina
55.8 TPM
Cervix Endocervix
54.4 TPM
OUTRAS DOENÇAS (2)
robinow syndrome, autosomal recessive 2autosomal recessive Robinow syndrome
HGNC:18008UniProt:Q6DKJ4
DVL3Segment polarity protein dishevelled homolog DVL-3Disease-causing germline mutation(s) inRestrito
FUNÇÃO

Involved in the signal transduction pathway mediated by multiple Wnt genes

LOCALIZAÇÃO

Cytoplasm

VIAS BIOLÓGICAS (3)
WNT mediated activation of DVLNegative regulation of TCF-dependent signaling by DVL-interacting proteinsDegradation of DVL
MECANISMO DE DOENÇA

Robinow syndrome, autosomal dominant 3

A form of Robinow syndrome, a rare skeletal dysplasia syndrome characterized by dysmorphic features resembling a fetal face, mesomelic limb shortening, genital hypoplasia, renal anomalies, and costovertebral segmentation defects.

EXPRESSÃO TECIDUAL(Ubíquo)
Útero
108.5 TPM
Cervix Endocervix
104.3 TPM
Cervix Ectocervix
101.6 TPM
Ovário
98.7 TPM
Cólon sigmoide
93.7 TPM
OUTRAS DOENÇAS (2)
autosomal dominant Robinow syndrome 3autosomal dominant Robinow syndrome
HGNC:3087UniProt:Q92997
DVL1Segment polarity protein dishevelled homolog DVL-1Disease-causing germline mutation(s) inTolerante
FUNÇÃO

Participates in Wnt signaling by binding to the cytoplasmic C-terminus of frizzled family members and transducing the Wnt signal to down-stream effectors. Plays a role both in canonical and non-canonical Wnt signaling. Plays a role in the signal transduction pathways mediated by multiple Wnt genes. Required for LEF1 activation upon WNT1 and WNT3A signaling. DVL1 and PAK1 form a ternary complex with MUSK which is important for MUSK-dependent regulation of AChR clustering during the formation of t

LOCALIZAÇÃO

Cell membraneCytoplasm, cytosolCytoplasmic vesicle

VIAS BIOLÓGICAS (3)
WNT mediated activation of DVLNegative regulation of TCF-dependent signaling by DVL-interacting proteinsDegradation of DVL
MECANISMO DE DOENÇA

Robinow syndrome, autosomal dominant 2

A rare skeletal dysplasia syndrome characterized by dysmorphic features resembling a fetal face, mesomelic limb shortening, hypoplastic external genitalia in males, costovertebral segmentation defects, and renal anomalies.

EXPRESSÃO TECIDUAL(Ubíquo)
Músculo esquelético
151.4 TPM
Testículo
135.6 TPM
Nervo tibial
129.3 TPM
Fallopian Tube
113.1 TPM
Cerebelo
108.1 TPM
OUTRAS DOENÇAS (2)
autosomal dominant Robinow syndrome 2autosomal dominant Robinow syndrome
HGNC:3084UniProt:O14640

Variantes genéticas (ClinVar)

257 variantes patogênicas registradas no ClinVar.

🧬 WNT5A: NM_003392.7(WNT5A):c.998A>G (p.Asp333Gly) ()
🧬 WNT5A: NM_003392.7(WNT5A):c.674C>G (p.Ala225Gly) ()
🧬 WNT5A: NM_003392.7(WNT5A):c.141-3C>T ()
🧬 WNT5A: NM_003392.7(WNT5A):c.583_584delinsAG (p.Glu195Arg) ()
🧬 WNT5A: NM_003392.7(WNT5A):c.932G>A (p.Arg311His) ()
Ver todas no ClinVar

Classificação de variantes (ClinVar)

Distribuição de 531 variantes classificadas pelo ClinVar.

106
372
53
Patogênica (20.0%)
VUS (70.1%)
Benigna (10.0%)
VARIANTES MAIS SIGNIFICATIVAS
WNT5A: NM_003392.7(WNT5A):c.247T>C (p.Cys83Arg) [Likely pathogenic]
DVL3: NM_004423.4(DVL3):c.1688dup (p.Ser564fs) [Likely pathogenic]
DVL3: NM_004423.4(DVL3):c.1672_1705del (p.Tyr558fs) [Pathogenic]
DVL1: NM_001330311.2(DVL1):c.1695del (p.Ser567fs) [Pathogenic]
DVL3: NM_004423.4(DVL3):c.1510C>G (p.Leu504Val) [Uncertain significance]

Diagnóstico

Os sinais que médicos procuram e os exames que confirmam

Carregando...

Tratamento e manejo

Remédios, cuidados de apoio e o que precisa acompanhar

Carregando informações de tratamento...

Onde tratar no SUS

Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)

🇧🇷 Atendimento SUS — Síndrome de Robinow

🗺️

Selecione um estado ou use sua localização para ver resultados.

Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.

Pesquisa ativa

Ensaios clínicos abertos e novidades científicas recentes

Pesquisa e ensaios clínicos

Nenhum ensaio clínico registrado para esta condição.

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Publicações mais relevantes

Timeline de publicações
87 papers (10 anos)
#1

Wnt5a Regulates Embryonic Müllerian Duct Development Through the Non-Canonical Wnt PCP Pathway.

Cells2026 Feb 17

Müllerian anomalies are anatomical variations of the female reproductive tract resulting from the incomplete development of the embryonic Müllerian ducts. The molecular mechanisms driving Müllerian duct development are complex and poorly understood, resulting in the largely unexplained aetiology of these conditions. WNT5A is a critical regulator of key developmental processes, including patterning, cell proliferation, and migration. Mutations of WNT5A have been associated with Robinow syndrome, a congenital condition characterized by skeletal and genital anomalies. In the mouse, WNT5A is necessary for the posterior development of the Müllerian duct, and ablation of Wnt5a results in vaginal agenesis. However, Wnt5a-/- uterine horns are hypoplastic and over 60% shorter than the wild type, suggesting specific functions in anterior Müllerian duct development. To better understand the role of Wnt5a, we performed single-cell RNA sequencing of developing Müllerian ducts. We found that the non-canonical Wnt PCP pathway was dysregulated in Wnt5a-/- mice. In addition, Wnt5a-/- Müllerian ducts were enriched in oviductal mesenchymal cells due to the transformation of the anterior uterine horns into oviducts. Our results indicate additional roles for Wnt5a during Müllerian duct development, prompting further investigations into uterine functions and anatomy in complex clinical cases of Müllerian anomalies including Robinow syndrome.

#2

Genetic Variants in DVL3 are Associated With Root Maldevelopment, Tooth Agenesis, Mesiodens, and Oral Exostoses.

International dental journal2026 Feb

DVL3 regulates tooth initiation, root formation, and craniofacial patterning through canonical and non-canonical WNT signalling. The objective of this study was to investigate the dental and craniofacial phenotypes associated with rare or novel DVL3 variants in Thai and Turkish patients. It aimed to broaden the understanding of the clinical spectrum of DVL3-related conditions, particularly their role in odontogenesis and craniofacial development. We evaluated 11 patients from Thai and Turkish cohorts with confirmed DVL3 variants through clinical, radiographic, and whole-exome and Sanger sequencing. All patients exhibited variable dental anomalies, including root malformations, oral exostoses, and mesiodens. Unlike the broader craniofacial and skeletal manifestations seen in syndromic Robinow syndrome, these cohorts demonstrated a dental-predominant phenotype, indicating a possible genotype-phenotype distinction. These findings highlight the role of canonical-noncanonical WNT signalling dysregulation in odontogenesis and dentoalveolar development. Rare or novel DVL3 variants can manifest primarily as complex dental anomalies with or without syndromic features. Early recognition and genetic evaluation of such cases are essential for accurate diagnosis, clinical management, and counselling. This study provides novel insights into the role of DVL3 in tooth and craniofacial development, with implications for future research and interdisciplinary care.

#3

Robinow Syndrome Mimicking Congenital Adrenal Hyperplasia.

JCEM case reports2026 Jan
#4

Nucleoredoxin regulates WNT signaling during pituitary stem cell differentiation.

Human molecular genetics2025 May 06

Nucleoredoxin (Nxn) encodes a multi-functional enzyme with oxidoreductase activity that regulates many different signaling pathways and cellular processes in a redox-dependent manner. Rare NXN mutations are reported in individuals with recessive Robinow syndrome, which involves mesomelic skeletal dysplasia, short stature, craniofacial dysmorphisms, and incompletely penetrant heart and palate defects. Here we report that Nxn is expressed in the ventral diencephalon and developing pituitary gland, and that Nxn deficient mice have pituitary dysmorphology and craniofacial abnormalities that include defects in the skull base and cleft palate. Nxn mutant mice exhibit reduced WNT signaling and reduced differentiation of pituitary stem cells into hormone-producing cells. These results suggest patients with Robinow syndrome could benefit from evaluation by endocrinologists for pituitary structural imaging and hormone insufficiency.

#5

Local Misalignment Scoring Reveals Spatially Uniform Chondrocyte Disorganization in a Wnt5a-C83S Knock-in Model of Robinow Syndrome.

Research square2025 Dec 17

The WNT5A-mediated Wnt/Planar Cell Polarity (Wnt/PCP) pathway plays a key role in vertebrate development, particularly in limb morphogenesis. Robinow Syndrome (RS) is a rare genetic disorder characterized primarily by craniofacial malformations and limb shortening that is linked to mutations in multiple Wnt/PCP genes. The pathogenic WNT5A point mutation, Cys83Ser (C83S), is one of the most-studied RS-associated variants to date. It has been described as a loss-of-function, hypomorphic, or dominant-negative variant based on overexpression studies in vitro and in vivo. However, a mammalian model that mimics the C83S condition in human RS patients has not yet been established, and methods to distinguish between Wnt/PCP loss-of-function and gain-of-function in vivo phenotypes remain limited. In this study, we present a novel image-based method, local misalignment score (LMS), for in situ visualization and quantification of cell alignment within long bones during late embryonic development, providing a reliable and specific in vivo readout of aberrant Wnt/PCP-associated phenotypes. Using this method to assess chondrocyte orientation across mouse limb regions, we found that the heterozygous germline Wnt5a-C83S point mutation in mice induces profound chondrocyte orientation defects. This phenotype is distinct from the disrupted chondrocyte orientation with spatially patterned severity observed in homozygous Wnt5a conditional knockout (Wnt5a-cKO) limbs, which represent a Wnt5a loss-of-function model, and from those in Wnt5a-LSL knock-in limbs, where ectopic Wnt5a expression disrupts the endogenous gradient rather than producing a true Wnt5a gain-of-function effect. We further performed a comprehensive in vitro analysis of Wnt5a-C83S in C3H10T1/2 cells using a luciferase-based KIF26B reporter system along with other established Wnt signaling readouts. The results show that the C83S mutation does not exert dominant-negative effects on Wnt/PCP signaling, consistent with our in vivo findings. In summary, our work provides new insights into the putative gain-of-function or neomorphic nature of the RS-related WNT5A mutation and its impact on WNT5A gradient-dependent limb development. We highlight the reliability of LMS as an in vivo morphological measure of chondrocyte orientation that reveals defects linked to aberrant Wnt/PCP activity. When combined with other spatially resolved readouts, LMS enables location-based evaluation of pathogenic mechanisms.

Publicações recentes

Ver todas no PubMed

📚 EuropePMC153 artigos no totalmostrando 84

2026

Wnt5a Regulates Embryonic Müllerian Duct Development Through the Non-Canonical Wnt PCP Pathway.

Cells
2025

Local Misalignment Scoring Reveals Spatially Uniform Chondrocyte Disorganization in a Wnt5a-C83S Knock-in Model of Robinow Syndrome.

Research square
2026

Robinow Syndrome Mimicking Congenital Adrenal Hyperplasia.

JCEM case reports
2026

Genetic Variants in DVL3 are Associated With Root Maldevelopment, Tooth Agenesis, Mesiodens, and Oral Exostoses.

International dental journal
2025

Wnt5a gain- and loss-of-function present distinctly in craniofacial bone.

bioRxiv : the preprint server for biology
2025

Pathogenic DVL frameshifting variants in Robinow syndrome disrupt WNT signaling and cellular dynamics.

bioRxiv : the preprint server for biology
2025

Robinow syndrome DVL1 variants disrupt morphogenesis and appendage formation in a Drosophila disease model.

Developmental dynamics : an official publication of the American Association of Anatomists
2025

Nucleoredoxin regulates WNT signaling during pituitary stem cell differentiation.

Human molecular genetics
2024

Fetal phenotype and diagnosis of autosomal dominant Robinow syndrome due to novel DVL1 variant.

Prenatal diagnosis
2024

Craniofacial studies in chicken embryos confirm the pathogenicity of human FZD2 variants associated with Robinow syndrome.

Disease models &amp; mechanisms
2024

Human Genetics of Ventricular Septal Defect.

Advances in experimental medicine and biology
2024

Structure and function of the ROR2 cysteine-rich domain in vertebrate noncanonical WNT5A signaling.

eLife
2024

Prenatal diagnosis of ROR-2 related Robinow syndrome presenting with fetal ultrasound findings of mesomelia, vertebral, digital and genital abnormalities.

Prenatal diagnosis
2024

ROR2-Related Skeletal Dysplasia Reveals Disrupted Chondrocyte Polarity through Modulation of BMP/TGF-β Signaling.

Aging and disease
2023

The non-canonical Wnt receptor Ror2 is required for cartilage cell polarity and morphogenesis of the craniofacial skeleton in zebrafish.

Development (Cambridge, England)
2023

Got WNTS? Insight into bone health from a WNT perspective.

Current topics in developmental biology
2023

Non-canonical WNT5A-ROR signaling: New perspectives on an ancient developmental pathway.

Current topics in developmental biology
2023

Robinow syndrome and its response to growth hormone treatment: a case report and review of the literature.

Boletin medico del Hospital Infantil de Mexico
2023

Mechanistic studies in Drosophila and chicken give new insights into functions of DVL1 in dominant Robinow syndrome.

Disease models &amp; mechanisms
2023

FZD2 regulates limb development by mediating β-catenin-dependent and -independent Wnt signaling pathways.

Disease models &amp; mechanisms
2023

Whole-Exome Sequencing Identified Rare Genetic Variants Associated with Undervirilized Genitalia in Taiwanese Pediatric Patients.

Biomedicines
2023

Successful therapeutic intervention in new mouse models of frizzled 2-associated congenital malformations.

Development (Cambridge, England)
2023

Robinow Syndrome: A Rare Diagnosis from Pakistan.

Journal of the College of Physicians and Surgeons--Pakistan : JCPSP
2022

Megacolon as a Feature of Suspected Robinow Syndrome.

Cureus
2022

Nephrological and urological symptoms in patients with Robinow syndrome - a report of two cases.

Polski merkuriusz lekarski : organ Polskiego Towarzystwa Lekarskiego
2022

Obstetrical Challenges in Robinow Syndrome.

Case reports in obstetrics and gynecology
2022

A very rare syndrome and its rare urological complication: Incomplet bladder duplication in Robinow syndrome.

Archivos espanoles de urologia
2022

Nuclear Dishevelled: An enigmatic role in governing cell fate and Wnt signaling.

Biochimica et biophysica acta. Molecular cell research
2022

Is Nucleoredoxin a Master Regulator of Cellular Redox Homeostasis? Its Implication in Different Pathologies.

Antioxidants (Basel, Switzerland)
2022

Phenotypic and mutational spectrum of ROR2-related Robinow syndrome.

Human mutation
2022

A novel frameshift mutation of DVL1-induced Robinow syndrome: A case report and literature review.

Molecular genetics &amp; genomic medicine
2022

Novel pathogenic variants and quantitative phenotypic analyses of Robinow syndrome: WNT signaling perturbation and phenotypic variability.

HGG advances
2022

A novel variant in WNT5A responsible for Robinow syndrome in a male fetus with limb shortening and agenesis of the penis.

Clinical dysmorphology
2022

A homozygous ROR2 variant in a family with atypical Robinow syndrome and tetramelic transverse deficiency of autopods.

American journal of medical genetics. Part A
2022

Robinow syndrome in an extremely preterm infant: Novel homozygous ROR2 variant detected by rapid exome sequencing.

American journal of medical genetics. Part A
2021

A ROR2 coding variant is associated with craniofacial variation in domestic pigeons.

Current biology : CB
2021

Chondrocyte Polarity During Endochondral Ossification Requires Protein-Protein Interactions Between Prickle1 and Dishevelled2/3.

Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research
2021

Stage-dependent function of Wnt5a during male external genitalia development.

Congenital anomalies
2021

Partial Trisomy of Chromosome 8q and Partial Monosomy of Chromosome 6p with Robinow Syndrome-Like Phenotype.

Indian journal of pediatrics
2021

Canine DVL2 variant contributes to brachycephalic phenotype and caudal vertebral anomalies.

Human genetics
2021

Robinow syndrome in a newborn presenting with hydrocephalus and craniosynostosis.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
2021

Clinical and molecular characterization of four patients with Robinow syndrome from different families.

American journal of medical genetics. Part A
2021

Robinow syndrome: Genital analysis, genetic heterogeneity, and associated psychological impact.

American journal of medical genetics. Part A
2021

Craniofacial phenotypes associated with Robinow syndrome.

American journal of medical genetics. Part A
2021

Novel pathogenic genomic variants leading to autosomal dominant and recessive Robinow syndrome.

American journal of medical genetics. Part A
2021

Extremity anomalies associated with Robinow syndrome.

American journal of medical genetics. Part A
2021

Neurocognitive, adaptive, and psychosocial functioning in individuals with Robinow syndrome.

American journal of medical genetics. Part A
2020

Characterization of the Robinow syndrome skeletal phenotype, bone micro-architecture, and genotype-phenotype correlations with the osteosclerotic form.

American journal of medical genetics. Part A
2021

Decompressive Cranial Vault Remodeling in Osteosclerotic Robinow Syndrome.

The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
2020

50 years of Robinow syndrome.

American journal of medical genetics. Part A
2020

Robinow Syndrome and Brachydactyly: An Interplay of High-Throughput Sequencing and Deep Phenotyping in a Kindred.

Molecular syndromology
2020

Autosomal recessive Robinow syndrome with novel ROR2 variants: distinct cases exhibiting the clinical variability.

Clinical dysmorphology
2020

Tomographic Study of the Malformation Complex in Correlation With the Genotype in Patients With Robinow Syndrome: Review Article.

Journal of investigative medicine high impact case reports
2019

Disorders of FZ-CRD; insights towards FZ-CRD folding and therapeutic landscape.

Molecular medicine (Cambridge, Mass.)
2020

Whole-exome sequencing identified compound heterozygous variants in ROR2 gene in a fetus with Robinow syndrome.

Journal of clinical laboratory analysis
2019

Robinow syndrome skeletal phenotypes caused by the WNT5AC83S variant are due to dominant interference with chondrogenesis.

Human molecular genetics
2019

Genetic interactions between Ror2 and Wnt9a, Ror1 and Wnt9a and Ror2 and Ror1: Phenotypic analysis of the limb skeleton and palate in compound mutants.

Genes to cells : devoted to molecular &amp; cellular mechanisms
2018

Whole genome variant association across 100 dogs identifies a frame shift mutation in DISHEVELLED 2 which contributes to Robinow-like syndrome in Bulldogs and related screw tail dog breeds.

PLoS genetics
2018

Main genetic entities associated with supernumerary teeth.

Archivos argentinos de pediatria
2018

Robinow syndrome: a diagnosis at the fingertips.

Clinical dysmorphology
2018

Surgical Management of Facial Features of Robinow Syndrome: A Case Report.

Open access Macedonian journal of medical sciences
2018

Biallelic loss-of-function WNT5A mutations in an infant with severe and atypical manifestations of Robinow syndrome.

American journal of medical genetics. Part A
2018

Autosomal dominant Robinow syndrome associated with a novel DVL3 splice mutation.

American journal of medical genetics. Part A
2018

Nonsense mutations in FZD2 cause autosomal-dominant omodysplasia: Robinow syndrome-like phenotypes.

American journal of medical genetics. Part A
2018

WNT Signaling Perturbations Underlie the Genetic Heterogeneity of Robinow Syndrome.

American journal of human genetics
2017

Robinow Syndrome and Fusion of Primary Teeth.

Contemporary clinical dentistry
2017

Dental management and orofacial manifestations of a patient with Robinow Syndrome.

Journal of Istanbul University Faculty of Dentistry
2017

Prenatal diagnosis of autosomal recessive Robinow syndrome using 3D ultrasound.

Clinical case reports
2017

Abnormal WNT5A Signaling Causes Mandibular Hypoplasia in Robinow Syndrome.

Journal of dental research
2017

Dishevelled Paralogs in Vertebrate Development: Redundant or Distinct?

Frontiers in cell and developmental biology
2017

Signaling pathways and tissue interactions in neural plate border formation.

Neurogenesis (Austin, Tex.)
2017

ROR-Family Receptor Tyrosine Kinases.

Current topics in developmental biology
2016

Ror2 signaling is required for local upregulation of GDF6 and activation of BMP signaling at the neural plate border.

Development (Cambridge, England)
2016

A novel splice site mutation of FGD1 gene in an Aarskog-Scott syndrome patient with a large anterior fontanel.

Journal of pediatric endocrinology &amp; metabolism : JPEM
2016

Syndromes with supernumerary teeth.

American journal of medical genetics. Part A
2016

A novel de-novo WNT5A mutation in a Chinese patient with Robinow syndrome.

Clinical dysmorphology
2016

DVL3 Alleles Resulting in a -1 Frameshift of the Last Exon Mediate Autosomal-Dominant Robinow Syndrome.

American journal of human genetics
2015

Robinow Syndrome: A Rare Diagnosis.

Journal of clinical and diagnostic research : JCDR
2016

Vertebral anomalies accompanying Robinow syndrome.

The spine journal : official journal of the North American Spine Society
2015

Robinow Syndrome: A Rare Case Report and Review of Literature.

International journal of clinical pediatric dentistry
2015

Clinical and molecular characterization of seven Egyptian families with autosomal recessive robinow syndrome: Identification of four novel ROR2 gene mutations.

American journal of medical genetics. Part A
2015

DVL1 frameshift mutations clustering in the penultimate exon cause autosomal-dominant Robinow syndrome.

American journal of human genetics
2015

Mutations in DVL1 cause an osteosclerotic form of Robinow syndrome.

American journal of human genetics
2014

Respiratory failure in Robinow syndrome was treated with non-invasive mechanical ventilation for the first time.

Tuberkuloz ve toraks
Ver todos os 153 no EuropePMC

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Comunidades

Grupos ativos de quem convive com esta doença aqui no Raras

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Doenças relacionadas

Doenças com sintomas parecidos — ajudam quem ainda está buscando diagnóstico

Ordenadas pelo número de sintomas em comum.

Referências e fontes

Bases de dados externas citadas neste artigo

Publicações científicas

Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.

  1. Wnt5a Regulates Embryonic M&#xfc;llerian Duct Development Through the Non-Canonical Wnt PCP Pathway.
    Cells· 2026· PMID 41744802mais citado
  2. Genetic Variants in DVL3 are Associated With Root Maldevelopment, Tooth Agenesis, Mesiodens, and Oral Exostoses.
    International dental journal· 2026· PMID 41265171mais citado
  3. Robinow Syndrome Mimicking Congenital Adrenal Hyperplasia.
    JCEM case reports· 2026· PMID 41477475mais citado
  4. Nucleoredoxin regulates WNT signaling during pituitary stem cell differentiation.
    Human molecular genetics· 2025· PMID 40044116mais citado
  5. Local Misalignment Scoring Reveals Spatially Uniform Chondrocyte Disorganization in a Wnt5a-C83S Knock-in Model of Robinow Syndrome.
    Research square· 2025· PMID 41510274mais citado
  6. Wnt5a gain- and loss-of-function present distinctly in craniofacial bone.
    bioRxiv· 2025· PMID 40777421recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:97360(Orphanet)
  2. MONDO:0019978(MONDO)
  3. GARD:312(GARD (NIH))
  4. Variantes catalogadas(ClinVar)
  5. Busca completa no PubMed(PubMed)
  6. Q1475743(Wikidata)

Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.

Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar

Síndrome de Robinow
Compêndio · Raras BR

Síndrome de Robinow

ORPHA:97360 · MONDO:0019978
Prevalência
Unknown
Casos
200 casos conhecidos
Herança
Autosomal dominant, Autosomal recessive
CID-10
Q87.1 · Síndromes com malformações congênitas associadas predominantemente com nanismo
CID-11
Início
Infancy, Neonatal
Prevalência
0.0 (Worldwide)
MedGen
UMLS
C0265205
EuropePMC
Wikidata
Papers 10a
DiscussaoAtiva

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