Trigonocephaly-broad thumbs syndrome

Orpha code: 3365OMIM code:

Definicja

Trigonocephaly-broad thumbs syndrome is characterized by neonatal trigonocephaly and multiple anomalies including craniosynostosis, shallow orbits, unusual nose, deviation of the terminal phalanges of fingers 1, 2, and 5, and broad toes with duplication of the terminal phalanx. It has been described in a mother and her son. It is transmitted as an autosomal dominant trait.

Disease data
Klasyfikacja

Malformation syndrome

Synonimy
Hunter-Rudd-Hoffmann syndrome
Zespół Huntera, Rudda i Hoffmanna
Kod ORPHA
3365
Kod OMIM
-
Kod ICD10
Q87.0
Kod ICD11
-

No additional description.

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