Cleft lip/palate - intestinal malrotation - cardiopathy
General Information (adopted from Orphanet):
| Synonyms, Signs: |
McPherson-Clemens syndrome |
| Number of Symptoms | 37 |
| OrphanetNr: | 2001 |
| OMIM Id: |
601165
|
| ICD-10: |
Q87.8 |
| UMLs: |
|
| MeSH: |
|
| MedDRA: |
|
| Snomed: |
|
Prevalence, inheritance and age of onset:
| Prevalence: | 4 cases [Orphanet] |
| Inheritance: |
Autosomal recessive [Orphanet] |
| Age of onset: |
Neonatal [Orphanet] |
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 Orofacial clefting syndrome -Rare developmental defect during embryogenesis -Rare genetic disease -Rare maxillo-facial surgical disease -Rare otorhinolaryngologic disease |
Symptom Information:
|
|
(HPO:0000204) | Cleft upper lip | 193 / 7739 | ||||
|
|
(HPO:0005469) | Flat occiput | 30 / 7739 | ||||
|
|
(HPO:0000277) | Abnormality of the mandible | Very frequent [Orphanet] | 394 / 7739 | |||
|
|
(HPO:0002744) | Bilateral cleft lip and palate | 7 / 7739 | ||||
|
|
(HPO:0000582) | Upslanted palpebral fissure | Frequent [Orphanet] | 185 / 7739 | |||
|
|
(HPO:0010297) | Bifid tongue | Occasional [Orphanet] | 17 / 7739 | |||
|
|
(HPO:0000316) | Hypertelorism | Very frequent [Orphanet] | 644 / 7739 | |||
|
|
(HPO:0000202) | Oral cleft | Very frequent [Orphanet] | 120 / 7739 | |||
|
|
(HPO:0000470) | Short neck | Very frequent [Orphanet] | 345 / 7739 | |||
|
|
(HPO:0000157) | Abnormality of the tongue | 6 / 7739 | ||||
|
|
(HPO:0012368) | Flat face | Very frequent [Orphanet] | 106 / 7739 | |||
|
|
(HPO:0000272) | Malar flattening | 277 / 7739 | ||||
|
|
(HPO:0000248) | Brachycephaly | Very frequent [Orphanet] | 222 / 7739 | |||
|
|
(HPO:0001169) | Broad palm | 43 / 7739 | ||||
|
|
(HPO:0004209) | Clinodactyly of the 5th finger | Frequent [Orphanet] | 288 / 7739 | |||
|
|
(HPO:0005922) | Abnormal hand morphology | 6 / 7739 | ||||
|
|
(HPO:0004279) | Short palm | 323 / 7739 | ||||
|
|
(HPO:0001172) | Abnormality of the thumb | Occasional [Orphanet] | 103 / 7739 | |||
|
|
(HPO:0009611) | Bifid distal phalanx of the thumb | 15 / 7739 | ||||
|
|
(HPO:0009944) | Partial duplication of thumb phalanx | 7 / 7739 | ||||
|
|
(HPO:0004510) | Pancreatic islet-cell hyperplasia | 9 / 7739 | ||||
|
|
(HPO:0002566) | Intestinal malrotation | Occasional [Orphanet] | 89 / 7739 | |||
|
|
(HPO:0003271) | Visceromegaly | 8 / 7739 | ||||
|
|
(HPO:0001520) | Large for gestational age | 34 / 7739 | ||||
|
|
(HPO:0012303) | Abnormality of the aortic arch | Occasional [Orphanet] | 57 / 7739 | |||
|
|
(HPO:0001643) | Patent ductus arteriosus | Occasional [Orphanet] | 228 / 7739 | |||
|
|
(HPO:0030680) | Abnormality of cardiovascular system morphology | Very frequent [Orphanet] | 355 / 7739 | |||
|
|
(HPO:0004383) | Hypoplastic left heart | Frequent [Orphanet] | 29 / 7739 | |||
|
|
(HPO:0030680) | Abnormality of cardiovascular system morphology | 355 / 7739 | ||||
|
|
(OMIM) | Broad, short hands | 14 / 7739 | ||||
|
|
(HPO:0001522) | Death in infancy | Frequent [Orphanet] | 275 / 7739 | |||
|
|
(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 | ||||
|
|
(OMIM) | Malrotation of the intestine | 1 / 7739 | ||||
|
|
(OMIM) | Normal chromosomes | 5 / 7739 | ||||
|
|
(OMIM) | Flat facial profile | 6 / 7739 | ||||
|
|
(OMIM) | Minor hand anomalies | 2 / 7739 | ||||
|
|
(OMIM) | Lethal complex congenital heart defect | 1 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|