Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: SHNS
Number of Symptoms 11
OrphanetNr: 363523
OMIM Id: 615328
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature
 -Rare genetic disease
 -Rare skin disease
Rare disease with odontological manifestation
 -Rare odontologic disease
Rare genetic intellectual deficit with developmental anomaly
 -Rare genetic disease
Rare intellectual deficit with developmental anomaly
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000670) Carious teeth 145 / 7739
2
 (HPO:0006297) Hypoplasia of dental enamel 64 / 7739
3
 (HPO:0000252) Microcephaly 832 / 7739
4
 (HPO:0000750) Delayed speech and language development 197 / 7739
5
 (HPO:0001249) Intellectual disability 1089 / 7739
6
 (HPO:0000972) Palmoplantar hyperkeratosis 41 / 7739
7
 (HPO:0000966) Hypohidrosis 41 / 7739
8
 (OMIM) Normal numbers of sweat glands 1 / 7739
9
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
10
 (HPO:0003577) Congenital onset 133 / 7739
11
 (OMIM) Microcephaly, borderline, acquired (in some patients) 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) 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., ...
Clinical Description OMIM Shaheen et al. (2013) reported a large multiple consanguineous Saudi family in which 8 individuals had mental retardation associated with variable abnormalities suggestive of ectodermal dysplasia, including hypohidrosis with normal numbers of sweat glands resulting in episodic hyperthermia, ...
Molecular genetics OMIM In 12 patients from 3 consanguineous Saudi families with mental retardation and hypohidrosis, Shaheen et al. (2013) identified a homozygous splice site mutation in the COG6 gene (606977.0001), resulting in decreased levels of the COG6 and STX6 (603944) ...