Trigonocephaly-broad thumbs syndrome

Orpha code: 3365OMIM code:

Definition

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
Classification

Malformation syndrome

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

No additional description.

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