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Inherited polymalformative syndrome characterized by supernumerary digits, webbing or fusion of digits, large and unusually shaped skull, frontal bossing, and hypertelorism.

Polysyndactyly with Peculiar Skull Shape; Polysyndactyly-Dysmorphic Craniofacies, Greig type; Frontodigital Syndrome; Hootnik-Holmes Syndrome.

Unknown; more than 100 cases have been described. First reported in 1926.

Autosomal dominant. There is evidence that this disorder is caused by a mutation in the zinc finger domain of the GL13 gene (gene map locus 7p13). There is phenotypic overlap with the Schinzel Acrocallosal syndrome.

Based on clinical findings, family history, and genetic testing.

The range and severity of symptoms is quite variable. Macroand scaphocephaly, a high forehead with frontal bossing and a broad nasal root with hypertelorism result in craniofacial dysmorphism, which however can be subtle in some cases. Although the gene for craniosynostosis is also located on chromosome 7, craniosynostosis is not a common feature of this disease. Intelligence is most often normal, but a few cases (less than 10%) have been described with agenesis of the corpus callosum, seizures and mild mental retardation. Broad thumbs and halluces, syndactyly (mainly of the fingers 3 and 4 and the toes 1-3), postaxial polydactyly of the hands, and preaxial polydactyly of the feet are typical. Hip dislocations have been reported.

Although rare, signs of craniosynostosis associated with increased intracranial pressure should be ruled out. Cooperation may be limited in patients with mental retardation and sedative and/or anxiolytic premedication as well as the presence of the primary caregiver for induction of anesthesia may be helpful.

Peripheral vascular access may be a bit more challenging given the anatomical features of the disease. Careful positioning is recommended to avoid dislocation of the hips. Avoid arterial hypotension, hypoxia, hypercapnia, and hyperthermia in the presence of increased intracranial pressure (ICP).

Avoid drugs that could result in a further increase in ICP and avoid premedication in this patient group (risk of hypercapnia and arterial hypotension).

Schinzel Acrocallosal Syndrome: Polymalformative syndrome characterized by polydactyly and/or syndactyly, macrocephaly, mental retardation, ocular hypertelorism, agenesis of the corpus callosum, small nose and dysplastic ears; mostly sporadic but autosomal recessive forms have been reported.

Acrocephalopolysyndactyly Syndromes Type II: Very similar clinical features but dwarfism is constant and genetic transmission is autosomal recessive.

Pallister-Hall Syndrome: Polymalformative syndrome characterized by craniofacial anomalies, polydactyly, cardiac and renal malformations, hypothalamic hamartoblastoma and endocrine disorders, and mild mental retardation; mostly sporadic but autosomal dominant mutations in chromosomes 3 and 7 have been reported in some cases.

Meckel-Gruber Syndrome: Autosomal recessive lethal polymalformative syndrome characterized by occipital encephalocele, polycystic kidneys, polydactyly, and pulmonary hypoplasia (leading cause of death); mapped to chromosome 17.

Short-Rib Polydactyly Syndrome: Congenital dwarfism with micromelia and narrowed thorax, polydactyly, and respiratory manifestations; constantly lethal.

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