Lamb-Shaffer syndrome

Orpha code: 530983OMIM code:

Definition

A rare genetic syndromic intellectual disability characterized by global developmental delay and speech delay, variable degrees of intellectual disability, and dysmorphic facial features (such as frontal bossing, epicanthal folds, strabismus, depressed nasal bridge, short philtrum, auricular abnormalities, micrognathia, or crowded teeth, among others). Additional reported manifestations are behavioral problems (stereotypies, aggression, anxiety, autism spectrum disorder), skeletal anomalies (scoliosis, pectus carinatum, clinodactyly of fingers and toes, among others), and seizures.

Disease data
Classification

Disease

Synonyms
SOX5 haploinsufficiency syndrome
Zespół haploinsuficjencji SOX5
ORPHA code
530983
OMIM code
-
ICD10 code
-
ICD11 code
-

No additional description.

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