Dislocation of the hip - dysmorphism

General Information (adopted from Orphanet):

Synonyms, Signs: HIP, CONGENITAL DISLOCATION OF, WITH HYPEREXTENSIBILITY OF FINGERS AND FACIAL DYSMORPHISM
Collins-Pope syndrome
Number of Symptoms 35
OrphanetNr: 2412
OMIM Id: 601450
ICD-10: Q87.2
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:0000079) Abnormality of the urinary system Occasional [Orphanet] 88 / 7739
2
 (HPO:0000076) Vesicoureteral reflux 94 / 7739
3
 (HPO:0000457) Depressed nasal ridge Frequent [Orphanet] 85 / 7739
4
 (HPO:0000445) Wide nose Frequent [Orphanet] 190 / 7739
5
 (HPO:0000463) Anteverted nares Frequent [Orphanet] 305 / 7739
6
 (HPO:0012368) Flat face 106 / 7739
7
 (HPO:0000316) Hypertelorism Frequent [Orphanet] 644 / 7739
8
 (HPO:0000286) Epicanthus Frequent [Orphanet] 371 / 7739
9
 (HPO:0000272) Malar flattening Frequent [Orphanet] 277 / 7739
10
 (HPO:0012371) Hyperplasia of midface Frequent [Orphanet] 10 / 7739
11
 (HPO:0000160) Narrow mouth Frequent [Orphanet] 188 / 7739
12
 (HPO:0000431) Wide nasal bridge 290 / 7739
13
 (HPO:0002705) High, narrow palate Frequent [Orphanet] 308 / 7739
14
 (HPO:0000239) Large fontanelles Occasional [Orphanet] 135 / 7739
15
 (HPO:0000598) Abnormality of the ear Frequent [Orphanet] 98 / 7739
16
 (HPO:0005191) Congenital knee dislocation 1 / 7739
17
 (HPO:0001385) Hip dysplasia Frequent [Orphanet] 242 / 7739
18
 (HPO:0009466) Radial deviation of finger Frequent [Orphanet] 101 / 7739
19
 (HPO:0001382) Joint hypermobility Frequent [Orphanet] 231 / 7739
20
 (HPO:0002815) Abnormality of the knee Occasional [Orphanet] 19 / 7739
21
 (HPO:0001374) Congenital hip dislocation 51 / 7739
22
 (HPO:0001388) Joint laxity 117 / 7739
23
 (HPO:0000023) Inguinal hernia 181 / 7739
24
 (HPO:0004299) Hernia of the abdominal wall Occasional [Orphanet] 176 / 7739
25
 (HPO:0003502) Mild short stature 19 / 7739
26
 (HPO:0030680) Abnormality of cardiovascular system morphology 355 / 7739
27
 (HPO:0001643) Patent ductus arteriosus Occasional [Orphanet] 228 / 7739
28
 (HPO:0001631) Atria septal defect 274 / 7739
29
 (HPO:0001655) Patent foramen ovale 31 / 7739
30
 (HPO:0001702) Abnormality of the tricuspid valve Frequent [Orphanet] 32 / 7739
31
 (HPO:0004760) Congenital septal defect Frequent [Orphanet] 69 / 7739
32
 (OMIM) Slight joint laxity 1 / 7739
33
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
34
 (OMIM) Normal growth 2 / 7739
35
 (OMIM) Puffy appearance around the eyes 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: