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Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome(SHNS)

MedGen UID:
815490
•Concept ID:
C3809160
•
Disease or Syndrome
Synonym: Shaheen syndrome
SNOMED CT: Shaheen syndrome (773553003); Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability syndrome (773553003)
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)
 
Gene (location): COG6 (13q14.11)
 
Monarch Initiative: MONDO:0014131
OMIM®: 615328
Orphanet: ORPHA363523

Definition

Shaheen syndrome is an autosomal recessive form of syndromic mental retardation. Affected individuals show severe intellectual disability, hypohidrosis, dental enamel hypoplasia, and hyperkeratosis of the palms and soles. Some may develop mild microcephaly (summary by Shaheen et al., 2013). [from OMIM]

Clinical features

From HPO
Palmoplantar hyperkeratosis
MedGen UID:
44017
•Concept ID:
C0022596
•
Disease or Syndrome
Abnormal thickening of the skin localized to the palm of the hand and the sole of the foot.
See: Feature record | Search on this feature
Delayed speech and language development
MedGen UID:
105318
•Concept ID:
C0454644
•
Finding
A degree of language development that is significantly below the norm for a child of a specified age.
See: Feature record | Search on this feature
Intellectual disability
MedGen UID:
811461
•Concept ID:
C3714756
•
Mental or Behavioral Dysfunction
Subnormal intellectual functioning which originates during the developmental period. Intellectual disability, previously referred to as mental retardation, has been defined as an IQ score below 70.
See: Feature record | Search on this feature
Microcephaly
MedGen UID:
1644158
•Concept ID:
C4551563
•
Finding
Head circumference below 2 standard deviations below the mean for age and gender.
See: Feature record | Search on this feature
Carious teeth
MedGen UID:
8288
•Concept ID:
C0011334
•
Disease or Syndrome
Caries is a multifactorial bacterial infection affecting the structure of the tooth. This term has been used to describe the presence of more than expected dental caries.
See: Feature record | Search on this feature
Enamel hypoplasia
MedGen UID:
3730
•Concept ID:
C0011351
•
Disease or Syndrome
Developmental hypoplasia of the dental enamel.
See: Feature record | Search on this feature
Hypohidrosis
MedGen UID:
43796
•Concept ID:
C0020620
•
Disease or Syndrome
Abnormally diminished capacity to sweat.
See: Feature record | Search on this feature
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Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVHypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome
Follow this link to review classifications for Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome in Orphanet.

Professional guidelines

PubMed

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Diagnosis

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Clinical prediction guides

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