Gorlin-Chaudhry-Moss syndrome
General Information (adopted from Orphanet):
| Synonyms, Signs: |
DENTAL AND EYE ANOMALIES, PATENT DUCTUS ARTERIOSUS, AND NORMAL INTELLIGENCE GCM SYNDROME CRANIOFACIAL DYSOSTOSIS, HYPERTRICHOSIS, HYPOPLASIA OF LABIA MAJORA, Craniofacial dysostosis - genital, dental, cardiac anomalies |
| Number of Symptoms | 62 |
| OrphanetNr: | 2095 |
| OMIM Id: |
233500
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| ICD-10: |
Q87.0 |
| UMLs: |
C0345382 |
| MeSH: |
C537290 |
| MedDRA: |
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| Snomed: |
205800003 |
Prevalence, inheritance and age of onset:
| Prevalence: | 7 cases [Orphanet] |
| Inheritance: |
Autosomal recessive [Orphanet] |
| Age of onset: |
Neonatal [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Ectodermal dysplasia syndrome
-Rare developmental defect during embryogenesis -Rare genetic disease -Rare skin disease 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:
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(HPO:0000059) | Hypoplastic labia majora | 22 / 7739 | ||||
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(HPO:0000164) | Abnormality of the teeth | Very frequent [Orphanet] | 291 / 7739 | |||
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(HPO:0011800) | Midface retrusion | 221 / 7739 | ||||
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(HPO:0004440) | Coronal craniosynostosis | 38 / 7739 | ||||
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(HPO:0000272) | Malar flattening | 277 / 7739 | ||||
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(HPO:0000668) | Hypodontia | 81 / 7739 | ||||
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(HPO:0000568) | Microphthalmia | 183 / 7739 | ||||
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(HPO:0000664) | Synophrys | rare [HPO:skoehler] | 112 / 7739 | |||
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(HPO:0000606) | Abnormality of the periorbital region | Very frequent [Orphanet] | 96 / 7739 | |||
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(HPO:0000625) | Cleft eyelid | Occasional [Orphanet] | 31 / 7739 | |||
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(HPO:0000494) | Downslanted palpebral fissures | 328 / 7739 | ||||
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(HPO:0006482) | Abnormality of dental morphology | 81 / 7739 | ||||
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(HPO:0000248) | Brachycephaly | Very frequent [Orphanet] | 222 / 7739 | |||
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(HPO:0002162) | Low posterior hairline | rare [HPO:skoehler] | 88 / 7739 | |||
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(HPO:0009804) | Reduced number of teeth | Very frequent [Orphanet] | 137 / 7739 | |||
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(HPO:0000691) | Microdontia | 104 / 7739 | ||||
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(HPO:0001363) | Craniosynostosis | Very frequent [Orphanet] | 132 / 7739 | |||
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(HPO:0009891) | Underdeveloped supraorbital ridges | 36 / 7739 | ||||
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(HPO:0000689) | Dental malocclusion | 114 / 7739 | ||||
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(HPO:0000294) | Low anterior hairline | Very frequent [Orphanet] | 52 / 7739 | |||
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(HPO:0000189) | Narrow palate | 45 / 7739 | ||||
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(HPO:0000456) | Bifid nasal tip | rare [HPO:skoehler] | 11 / 7739 | |||
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(HPO:0000636) | Upper eyelid coloboma | 7 / 7739 | ||||
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(HPO:0000929) | Abnormality of the skull | Frequent [Orphanet] | 53 / 7739 | |||
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(HPO:0000316) | Hypertelorism | Very frequent [Orphanet] | 644 / 7739 | |||
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(HPO:0009924) | Aplasia/Hypoplasia involving the nose | Frequent [Orphanet] | 18 / 7739 | |||
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(HPO:0000327) | Hypoplasia of the maxilla | Frequent [Orphanet] | 129 / 7739 | |||
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(HPO:0000218) | High palate | 356 / 7739 | ||||
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(HPO:0000478) | Abnormality of the eye | Very frequent [Orphanet] | 126 / 7739 | |||
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(HPO:0000508) | Ptosis | 459 / 7739 | ||||
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(HPO:0000647) | Sclerocornea | Frequent [Orphanet] | 25 / 7739 | |||
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(HPO:0000496) | Abnormality of eye movement | Very frequent [Orphanet] | 79 / 7739 | |||
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(HPO:0000483) | Astigmatism | Frequent [Orphanet] | 67 / 7739 | |||
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(HPO:0000639) | Nystagmus | Very frequent [Orphanet] | 555 / 7739 | |||
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(HPO:0000540) | Hypermetropia | 99 / 7739 | ||||
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(HPO:0000405) | Conductive hearing impairment | Very frequent [Orphanet] | 164 / 7739 | |||
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(HPO:0000358) | Posteriorly rotated ears | 163 / 7739 | ||||
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(HPO:0009882) | Short distal phalanx of finger | 125 / 7739 | ||||
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(HPO:0009115) | Aplasia/hypoplasia involving the skeleton | Frequent [Orphanet] | 7 / 7739 | |||
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(HPO:0001760) | Abnormality of the foot | Very frequent [Orphanet] | 96 / 7739 | |||
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(HPO:0001163) | Abnormality of the metacarpal bones | Very frequent [Orphanet] | 149 / 7739 | |||
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(HPO:0001155) | Abnormality of the hand | Very frequent [Orphanet] | 54 / 7739 | |||
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(HPO:0001857) | Short distal phalanx of toe | 6 / 7739 | ||||
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(HPO:0001537) | Umbilical hernia | Frequent [Orphanet] | 206 / 7739 | |||
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(HPO:0004322) | Short stature | Very frequent [Orphanet] | 1232 / 7739 | |||
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(HPO:0001798) | Anonychia | rare [HPO:skoehler] | 28 / 7739 | |||
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(HPO:0002208) | Coarse hair | Very frequent [Orphanet] | 58 / 7739 | |||
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(HPO:0004554) | Generalized hypertrichosis | 30 / 7739 | ||||
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(HPO:0011362) | Abnormal hair quantity | Very frequent [Orphanet] | 92 / 7739 | |||
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(HPO:0001007) | Hirsutism | 91 / 7739 | ||||
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(HPO:0000998) | Hypertrichosis | 52 / 7739 | ||||
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(HPO:0002230) | Generalized hirsutism | 32 / 7739 | ||||
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(HPO:0001792) | Small nail | rare [HPO:skoehler] | 55 / 7739 | |||
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(HPO:0001643) | Patent ductus arteriosus | Frequent [Orphanet] | 228 / 7739 | |||
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(HPO:0012758) | Neurodevelopmental delay | Very frequent [Orphanet] | 949 / 7739 | |||
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(OMIM) | Clival hypoplasia | 1 / 7739 | ||||
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(HPO:0045025) | Narrow palpebral fissure | 8 / 7739 | ||||
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(HPO:0012725) | Cutaneous syndactyly | rare [HPO:skoehler] | 2 / 7739 | |||
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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 | ||||
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(OMIM) | Stocky body build | 1 / 7739 | ||||
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(OMIM) | Hypoplastic nasal bones | 1 / 7739 | ||||
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(OMIM) | Elevation of the lessor sphenoidal wings | 1 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|
Additional Information:
| Clinical Description OMIM |
Gorlin et al. (1960) described 2 sisters with craniofacial dysostosis, patent ductus arterious, hypertrichosis, genital hypoplasia, and ocular, dental, and digital anomalies. The parents were not known to be related. The same sisters were reported by Feinberg (1960) ... |