An orofaciodigital syndrome characterized by the
association of metacarpal abnormalities with
central polydactyly and cerebellar abnormality.
Lingual nodules in a newborn with Varadi-Papp Syndrome.
Oral-Facial-Digital Syndrome type VI; Orofaciodigital
Syndrome VI; Polydactyly Cleft Lip/Palate or Lingual Lump and Psychomotor
The cerebellar abnormalities are thought to be
caused by a primary neuronal or glial cell defect.
Characteristic malformations generally noted at birth
but can also be detected on fetoscopy. Magnetic resonance imaging demonstrates
hypoplasia of the cerebellar vermis. Radiography of limb extremities shows
polydactyly characterized by a Y-shaped central metacarpal.
Reduplicated big toes; hexadactyly; central hand
polydactyly; cleft lip; cleft palate; multiple ear abnormalities; lingual
nodule; growth retardation; absent olfactory bulbs and tracts; cerebellar
signs; congenital heart defect; recurrent episodes of tachypnea and
hyperpnea; cryptorchidism; and inguinal hernia are described. Death occurs
in neonatal period or early childhood.
Assessment of airway. Evaluate
cardiac and respiratory function (clinical, chest radiographs, echocardiography,
arterial blood gas analysis).
Possible difficulties with tracheal
intubation as a result of facial abnormalities and often the presence of significant
lingual nodules, especially the posterior ones. Perioperative cardiac and
respiratory monitoring is recommended.
Prophylactic antibiotics must be
considered in cases of
Oral-Facial-Digital Syndrome (OFD): At least
nine types of Oral-Facial-Digital Syndrome have been identified. Symptoms
common to most include episodic neuromuscular disturbances, split tongue,
mandible splits, midline cleft lip, overgrowth frenulum, broad-based nose,
epicanthic folds, polysyndactyly, camptodactyly, increased number of
Juberg-Hayward Syndrome: Characterized by
cleft lip and palate malformations, microcephaly, deformities of the thumbs
and toes, and short stature.
Acrofacial Dysostosis: An Overview (Nager Type):
hereditary disorder presenting with cleft lip and palate, craniofacial
anomalies, micrognathia, and small thumbs.
Joubert Syndrome: Very rare
hereditary neurological disorder characterized by severe ataxia and coordination. The
neuromuscular and eye movement disturbances are similar to those of
Oral-Facial-Digital Syndrome. Other clinical features include psychomotor
retardation and/or respiratory problems.
Doss BJ, Jolly S, Quereshi F, et al: Neuropathologic findings in a case
of OFDS type VI (Varadi syndrome). Am J Med Genet
Varadi V, Szabo L, Papp Z: Syndrome of polydactyly, cleft lip/palate or
lingual lump, and psychomotor retardation in endogamic gypsies. J Med Genet