Hunter-McAlpine craniosynostosis

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 10
OrphanetNr: 97340
OMIM Id: 601379
ICD-10: Q87.0
UMLs: C1832408
MeSH: C536072
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 10 cases [Orphanet]
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Syndromic craniosynostosis
 -Rare bone disease
 -Rare developmental defect during embryogenesis
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
(HPO:0000160) Narrow mouth 188 / 7739
2
(HPO:0002714) Downturned corners of mouth 98 / 7739
3
(HPO:0001363) Craniosynostosis 132 / 7739
4
(HPO:0007874) Almond-shaped palpebral fissure 4 / 7739
5
(HPO:0001249) Intellectual disability 1089 / 7739
6
(HPO:0004322) Short stature 1232 / 7739
7
(OMIM) Mild acral-skeletal anomalies 1 / 7739
8
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
9
(OMIM) 17q23.1-q24.2 deletion in a sporadic case 1 / 7739
10
(OMIM) Downturned or small mouth 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Hunter et al. (1977) identified 6 members of family with characteristic facial features, including microcephaly, almond-shaped palpebral fissures, and downturned or small mouth, mental retardation, mild skeletal anomalies, short stature, and craniosynostosis.

Van Maldergem et al. ...