Hypoglossia is a rare developmental anomaly of tongue. It is usually associated with various syndromes and other anomalies. Most common association of hypoglossia is with limb deformity and these disorders are collectively grouped as Oro Mandibular Limb Hypogenesis (OLHS) Syndrome. It represents a spectrum of disorders and cases with deviation from the original classification has been reported. Isolated hypoglossia without limb deformity is very rare and has been classified as OLHS Type 1 A by Hall. Features associated with this disorder is hypoplastic mandible, absence of mandibular incisors, intra oral bands and marked enlargement of sublingual muscular ridges and glands. This article reports a case of 22 years old female patient with isolated hypoglossia. Patient reported with the chief complain of irregularly placed teeth. Extra oral finding revealed a convex profile with retrognathic mandible. Intraoral examination revealed crowding in teeth with a constricted maxillary and mandibular arch. A small rudimentary tongue with reduced range of movement was seen. However no abnormalities of the extremities was seen. Key words:Hanhart syndrome, Hypoplastic mandible, Oligodontia, Small tongue.

Hypoglossia is a rare congenital anomaly resulting in a small rudimentary tongue. It is classified under the oromandibular-limb hypogenesis syndrome and can be found in isolation (Type IA) but is more often associated with other congenital disorders, such as limb defects. Isolated hypoglossia cases are rare, and while feeding disorders are common, in some cases, neonatal airway obstruction is the most problematic. In the present report, we discuss two cases of newborns presenting with hypoglossia without limb deformities or visceral anomalies: one new case and a 10-year update of a previously reported case. These two cases highlight the variability in presenting symptoms and the challenges in diagnosis and management of a rare clinical entity. We focus on the discussion of early diagnosis, multidisciplinary management, and shared decision-making, with emphasis on the current therapeutic strategies available to the clinician and their limitations during the neonatal period. Early surgical multivector mandibular distraction osteogenesis can be proposed with minimal short- and long-term morbidity, pending a consistent follow-up. This clinical entity will require multidisciplinary team care into adult years.

Oromandibular limb hypogenesis syndrome is a rare developmental anomaly and only a few cases are reported with complete surgical and orthodontic rehabilitation. An adult male patient with isolated hypoglossia, micrognathism, hypodontia, (oromandibular limb hypogenesis syndrome type I A) was treated with a combination of distraction osteogenesis and orthodontic intervention. The patient was followed up for the duration of 6 years from his first visit to 4 years after the surgery. The combined procedure resulted in successful and satisfactory treatment of the patient by restoring facial aesthetics, occlusal balance, and functional harmony. However, there was not enough tongue enlargement due to late surgical intervention. The objective of this report is to describe the etiology of hypoglossia, the consequences for oral function, and to share our experience from the oral rehabilitation during the treatment procedure.

The oromandibular limb hypogenesis syndromes (OLHS) represent a group of rare conditions characterized by congenital malformations involving the tongue, mandible, and limbs. In this report, we describe a newborn girl with paralysis of abducens and facial nerves, transverse agenesis of the distal segments of the limbs, micrognathia, cleft lip and palate, and ankyloglossia superior. This observation confirms an overlap between Moebius syndrome and ankyloglossia superior syndrome with severe limb defects. The etiology of the OLHS is not clearly understood. The intriguing link between facial and limb anomalies can result from their simultaneous development from the fourth to eighth week of gestation, making both areas susceptible to the same teratogenic stimuli. There is an overlap between OLHS conditions, supporting a clustering, rather than a divided nosology and requiring an appropriate classification of these conditions. Patients with OLHS can be successfully managed using a multidisciplinary approach.

Syngnathia is a rare facial anomaly associated with neonatal problems, including a compromised airway, and the inability to take in solids and/or liquids. Syngnathia is included within the spectrum of oromandibular limb hypogenesis syndrome, an extremely rare condition characterized by varying degrees of congenital malformation involving the tongue, mandible, and limbs. In this report, we describe the case of a 41-day-old Caucasian female infant who was unable to open her mouth beginning at birth. The authors performed osteotomies to separate fused bone, and placed a bite block at the osteotomy sites to prevent bone fusion recurrence. At 2 years of follow-up patient remained with 14 mm of mouth opening.