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An orofaciodigital syndrome characterized by the
association of metacarpal abnormalities with
central polydactyly and cerebellar abnormality.
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Oral-Facial-Digital Syndrome type VI; Orofaciodigital
Syndrome VI; Polydactyly Cleft Lip/Palate or Lingual Lump and Psychomotor
Retardation.
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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.
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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.
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Prophylactic antibiotics must be
considered in cases of
cardiac defect.
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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
calvarial plates.
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Juberg-Hayward Syndrome: Characterized by
cleft lip and palate malformations, microcephaly, deformities of the thumbs
and toes, and short stature.
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Acrofacial Dysostosis: An Overview (Nager Type):
Rare
hereditary disorder presenting with cleft lip and palate, craniofacial
anomalies, micrognathia, and small thumbs.
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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 77:38, 1998.
[PubMed: 9557892]
Varadi V, Szabo L, Papp Z: Syndrome of polydactyly, cleft lip/palate or
lingual lump, and psychomotor retardation in endogamic gypsies.
J Med Genet
17:119, 1980.
[PubMed: 7381865]