Trigonocephaly-short stature-developmental delay syndrome

Orpha code: 3369OMIM code: 314320

Definition

A rare developmental defect during embryogenesis characterized by premature closure of metopic sutures and/or other sutures, short stature, and developmental delay. Dysmorphic features include trigonocephaly, metopic ridge, narrow forehead, bitemporal narrowing, arched eyebrows, hypotelorism, deep-set eyes, epicanthal folds, strabismus, wide nasal bridge, small pointed nose, anteverted nostrils, long philtrum, low-set ears, malar flattening, narrow mouth, thin lips, high-arched palate, crowded teeth, and micrognathia. Variable additional manifestations may include conductive hearing loss, cerebral (mainly involving the white matter), skeletal (e.g. brachymesophalangy of the fifth fingers), cardiovascular and renal anomalies, inguinal hernia, hypospadias, and seizures.

Disease data
Classification

Malformation syndrome

Synonyms
Say-Meyer syndrome
Zespół Say'a i Meyera
ORPHA code
3369
OMIM code
314320
ICD10 code
Q87.0
ICD11 code
-

No additional description.

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