Autosomal dominant prognathism

General Information (adopted from Orphanet):

Synonyms, Signs: HAPSBURG JAW&#39
HABSBURG JAW&#39
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Number of Symptoms 9
OrphanetNr: 2964
OMIM Id: 176700
ICD-10: K07.1
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual deficit
 -Rare genetic disease
Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit
 -Rare developmental defect during embryogenesis

Symptom Information: Sort by abundance 

1
 (HPO:0000179) Thick lower lip vermilion 72 / 7739
2
 (HPO:0000689) Dental malocclusion Very frequent [Orphanet] 114 / 7739
3
 (HPO:0001363) Craniosynostosis Occasional [HPO:curators] 132 / 7739
4
 (HPO:0000303) Mandibular prognathia Very frequent [Orphanet] 179 / 7739
5
 (HPO:0007651) Ectropion of lower eyelids 2 / 7739
6
 (HPO:0000232) Everted lower lip vermilion Frequent [Orphanet] 90 / 7739
7
 (OMIM) Mildly everted lower eyelids 1 / 7739
8
 (OMIM) Flat malar area 2 / 7739
9
 (OMIM) Occasional craniosynostosis 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Mandibular prognathism is a dentofacial anomaly characterized by protrusion of the mandible, with lower incisors often overlapping the upper incisors. The protruding lower jaw is caused by a forward positioning of the mandible itself (summary by Stiles and ...
Clinical Description OMIM Thompson and Winter (1988) described affected individuals in 3 generations. They pointed out that in addition to mandibular prognathism, there is thickened lower lip, flat malar areas, and mildly everted lower eyelids. One child in the family had ...