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Very rare familial bipolar syndrome characterized by short stature resulting from growth hormone deficiency. Affected individuals have microcephaly, cleft lip/palate, and deformities of the thumbs and limbs.

Oro-Cranio-Digital Syndrome; Cleft Lip/Palate with Abnormal Thumbs and Microcephaly Syndrome.

Very rare genetic disorder with probable autosomal inheritance.

Patients have short stature and mental retardation. Syndrome involves head (cleft lip/palate, microcephaly, hypertelorism, broad nose, bowed and upward-slanting eyebrows, and ptosis), skeleton (hypoplastic stiff and distally placed thumbs, brachydactyly, limited elbow extension, anomalous carpal bones, deformity of radial heads, toe anomalies, and vertebral and rib anomalies). Other features include horseshoe kidneys, micropenis, and anterior anal displacement. Laboratory investigations show growth hormone deficiency.

Ventilation with a face mask, direct laryngoscopy and tracheal intubation can be difficult because of facial malformations. The airway must be preoperatively assessed. Maintain spontaneous ventilation until the trachea is intubated and lung ventilated. Avoid neck extension. Careful intraoperative positioning is needed. Venous access on superior limb can be difficult.

Fetal Aminopterin Syndrome: Teratogenic syndrome caused by maternal intake of aminopterin or methotrexate. Characterized by growth failure, craniofacial deformities, hydrocephalus, mental retardation, and skeletal defects.

Malpuech Syndrome: Malformative syndrome characterized by hypertelorism, facial clefting, urogenital abnormalities, severe growth failure, and mental retardation.

Juberg RC, Hayward JR: A new familial syndrome of oral, cranial, and digital anomalies. J Pediatr 74:755, 1969.  [PubMed: 5778829]
Silengo M, Tornetta L: Juberg-Hayward syndrome: Report of a case with cleft palate, distally placed thumbs and vertebral anomalies. Clin Dysmorphol 9:127, 2000.  [PubMed: 10826626]
Verloes A, Le Merrer M, Davin JC, et al: The orocraniodigital syndrome of Juberg and Hayward. J Med Genet 29:262, 1992.  [PubMed: 1583649]

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