Orphanet: Intellectual disability, Wolff type

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Intellectual disability, Wolff type

Disease definition

Intellectual disability, Wolff type is a rare intellectual disability syndrome characterized by severe intellectual disability, characteristic facial features (low anterior hairline, upward slanting palpebral fissures, ocular hypertelorism, broad, bulbous nose, large ears with helix incompletely developed, thick lips, and micrognathia) and additional anomalies including peripheral joint contractures, delayed skeletal maturation, bilateral cleft lip and palate, strabismus, terminal hypoplasia of fingers, hypospadias, and bilateral inguinal hernias.

ORPHA:3080

Classification level: Disorder

Synonym(s):
- Wolff-Zimmermann syndrome
Prevalence: <1 / 1 000 000
Inheritance: -
Age of onset: Neonatal
ICD-10: Q87.0
OMIM: 277990
UMLS: C1848439
MeSH: -
GARD: 3530
MedDRA: -

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Intellectual disability, Wolff type

ORPHA:3080

A summary on this disease is available in Deutsch (2017) Español (2017) Français (2017) Italiano (2017) Nederlands (2017)

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