Details of Disease | DrugMAP

General Information of Disease (ID: DISAHCQX)

Disease Name	Microcephaly-short stature-intellectual disability-facial dysmorphism syndrome
Definition	Microcephaly-short stature-intellectual disability-facial dysmorphism syndrome is a rare genetic malformation syndrome with short stature characterized by postnatal microcephaly, failure to thrive and short stature, global developmental delay and intellectual disability, hypotonia, dysmorphic features (short nose, depressed nasal bridge, low set ears, short neck, clinodactyly and cutaneous syndactyly of T2-3 at birth and broad forehead, midface retrusion, epicanthal folds, laterally sparse eyebrows, short nose, long philtrum, widely spaced teeth, micrognathia and coarsening of facial features later in life). Other associated features include postnatal transient generalized edema, myopia, strabismus, hypothyroidism.
Disease Hierarchy	DISDOXWZ: Multiple congenital anomalies/dysmorphic syndrome-intellectual disability DISAHCQX: Microcephaly-short stature-intellectual disability-facial dysmorphism syndrome
Disease Identifiers	MONDO ID MONDO_0018494 UMLS CUI C4749647 MedGen ID 1659920 Orphanet ID 423306 SNOMED CT ID 771074000

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
QARS1	DEVSTRI	Supportive	Autosomal recessive	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
QARS1	OT2GJ7XZ	Supportive	Autosomal recessive	[1]
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References

1	Severe growth deficiency, microcephaly, intellectual disability, and characteristic facial features are due to a homozygous QARS mutation. Neurogenetics. 2017 Jul;18(3):141-146. doi: 10.1007/s10048-017-0516-6. Epub 2017 Jun 15.