CATARACT, MICROCEPHALY, FAILURE TO THRIVE, KYPHOSCOLIOSIS SYNDROME

General Information (adopted from Orphanet):

Synonyms, Signs: CAMAK SYNDROME, INCLUDED
CAMFAK SYNDROME CATARACT, MICROCEPHALY, ARTHROGRYPOSIS, KYPHOSIS SYNDROME, INCLUDED
Number of Symptoms 15
OrphanetNr:
OMIM Id: 212540
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000271) Abnormality of the face 108 / 7739
2
(HPO:0000252) Microcephaly 832 / 7739
3
(HPO:0000518) Cataract 454 / 7739
4
(HPO:0006887) Intellectual disability, progressive 68 / 7739
5
(HPO:0010864) Intellectual disability, severe 120 / 7739
6
(HPO:0001257) Spasticity 251 / 7739
7
(HPO:0002804) Arthrogryposis multiplex congenita 93 / 7739
8
(HPO:0002751) Kyphoscoliosis 131 / 7739
9
(HPO:0002827) Hip dislocation 94 / 7739
10
(HPO:0001518) Small for gestational age 107 / 7739
11
(HPO:0001508) Failure to thrive 454 / 7739
12
(OMIM) Bilateral hip dislocation 1 / 7739
13
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
14
(OMIM) Bird-like appearance 1 / 7739
15
(OMIM) Severe spasticity 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Scott-Emuakpor et al. (1977) described a family in which 4 of 7 sibs (3 girls, 1 boy) were born with microcephaly, and later developed cataracts, severe spasticity, bilateral hip dislocation, kyphoscoliosis, and severe mental retardation (CAMFAK syndrome). On ...