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An orofaciodigital syndrome characterized by the association of metacarpal abnormalities with central polydactyly and cerebellar abnormality.

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Varadi-Papp syndrome
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Lingual nodules in a newborn with Varadi-Papp Syndrome.

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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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Autosomal recessive.

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The cerebellar abnormalities are thought to be caused by a primary neuronal or glial cell defect.

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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.

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Assessment of airway. Evaluate cardiac and respiratory function (clinical, chest radiographs, echocardiography, arterial blood gas analysis).

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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]

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