Achalasia microcephaly syndrome

MedGen UID:: 349753
•Concept ID:: C1860212
•: Disease or Syndrome

Synonyms:	Achalasia microcephaly; Achalasia-Microcephaly Syndrome
SNOMED CT:	Achalasia microcephaly syndrome (718573009)
Modes of inheritance:	Autosomal recessive inheritance MedGen UID: 141025 •Concept ID: C0441748 • Intellectual Product Source: Orphanet A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Autosomal recessive inheritance (Orphanet)

Monarch Initiative:	MONDO:0008699
OMIM®:	200450
Orphanet:	ORPHA929

Definition

An extremely rare genetic syndrome, reported in a few families to date with characteristics of the association of microcephaly, intellectual deficit and achalasia. Symptoms of achalasia include coughing, dysphagia, vomiting, failure to thrive and aspiration appearing in infancy/early-childhood. [from SNOMEDCT_US]

Clinical features

From HPO

Achalasia

MedGen UID:: 5023
•Concept ID:: C0014848
•: Disease or Syndrome

A disorder of esophageal motility characterized by the inability of the lower esophageal sphincter to relax during swallowing and by inadequate or lacking peristalsis in the lower half of the body of the esophagus.

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Intellectual disability

MedGen UID:: 811461
•Concept ID:: C3714756
•: Mental or Behavioral Dysfunction

Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.

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Microcephaly