CATEL-MANZKE SYNDROME

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 29
OrphanetNr:
OMIM Id: 616145
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance:
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000028) Cryptorchidism 347 / 7739
2
(HPO:0000470) Short neck 345 / 7739
3
(HPO:0000204) Cleft upper lip 193 / 7739
4
(HPO:0000476) Cystic hygroma 22 / 7739
5
(HPO:0000162) Glossoptosis 26 / 7739
6
(HPO:0000347) Micrognathia 426 / 7739
7
(HPO:0000218) High palate 356 / 7739
8
(HPO:0000175) Cleft palate 349 / 7739
9
(HPO:0000377) Abnormality of the pinna 111 / 7739
10
(HPO:0000369) Low-set ears 372 / 7739
11
(HPO:0001263) Global developmental delay 853 / 7739
12
(HPO:0001250) Seizures 1245 / 7739
13
(HPO:0004209) Clinodactyly of the 5th finger 288 / 7739
14
(HPO:0001762) Talipes equinovarus 309 / 7739
15
(HPO:0012385) Camptodactyly 113 / 7739
16
(HPO:0000767) Pectus excavatum 244 / 7739
17
(HPO:0009464) Ulnar deviation of the 2nd finger 6 / 7739
18
(HPO:0001388) Joint laxity 117 / 7739
19
(HPO:0000954) Single transverse palmar crease 162 / 7739
20
(HPO:0000768) Pectus carinatum 136 / 7739
21
(HPO:0001373) Joint dislocation 59 / 7739
22
(HPO:0000023) Inguinal hernia 181 / 7739
23
(HPO:0001537) Umbilical hernia 206 / 7739
24
(HPO:0001511) Intrauterine growth retardation 358 / 7739
25
(HPO:0008897) Postnatal growth retardation 113 / 7739
26
(HPO:0002623) Overriding aorta 8 / 7739
27
(HPO:0001651) Dextrocardia 38 / 7739
28
(HPO:0001629) Ventricular septal defect 316 / 7739
29
(HPO:0001680) Coarctation of aorta 57 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: