Cooks syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: COOKS SYNDROME
ODP
Anonychia - onychodystrophy with hypoplasia or absence of distal phalanges
Number of Symptoms 25
OrphanetNr: 1487
OMIM Id: 106995
ICD-10: Q84.6
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 11 cases [Orphanet]
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: Neonatal
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Syndrome with brachydactyly
 -Rare bone disease
 -Rare developmental defect during embryogenesis
Syndromic nail anomaly
 -Rare genetic disease
 -Rare skin disease

Symptom Information: Sort by abundance 

1
 (HPO:0000322) Short philtrum 130 / 7739
2
 (HPO:0000426) Prominent nasal bridge 121 / 7739
3
 (HPO:0000430) Underdeveloped nasal alae 90 / 7739
4
 (HPO:0000448) Prominent nose 56 / 7739
5
 (HPO:0000494) Downslanted palpebral fissures 328 / 7739
6
 (HPO:0000218) High palate 356 / 7739
7
 (HPO:0009943) Complete duplication of thumb phalanx 8 / 7739
8
 (HPO:0001172) Abnormality of the thumb Very frequent [Orphanet] 103 / 7739
9
 (HPO:0006118) Shortening of all distal phalanges of the fingers 3 / 7739
10
 (HPO:0005793) Shortening of all distal phalanges of the toes 1 / 7739
11
 (HPO:0004279) Short palm Very frequent [Orphanet] 323 / 7739
12
 (HPO:0009380) Aplasia of the fingers Very frequent [Orphanet] 51 / 7739
13
 (HPO:0009237) Short 5th finger 16 / 7739
14
 (HPO:0001800) Hypoplastic toenails Very frequent [Orphanet] 74 / 7739
15
 (HPO:0001798) Anonychia 28 / 7739
16
 (HPO:0008404) Nail dystrophy 89 / 7739
17
 (HPO:0002164) Nail dysplasia 82 / 7739
18
 (HPO:0001805) Thick nail Very frequent [Orphanet] 96 / 7739
19
 (HPO:0001804) Hypoplastic fingernail Very frequent [Orphanet] 62 / 7739
20
 (HPO:0008388) Abnormality of the toenails Frequent [Orphanet] 28 / 7739
21
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
22
 (OMIM) Absent/hypoplastic distal phalanges of feet 1 / 7739
23
 (OMIM) Bulbous tip 1 / 7739
24
 (OMIM) Absent/hypoplastic distal phalanges of hands 1 / 7739
25
 (HPO:0001199) Triphalangeal thumb Very frequent [Orphanet] 56 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Familial anonychia/onychodystrophy with hypoplasia or absence of distal phalanges (ODP) is a rare disorder characterized by onychodystrophy, anonychia, brachydactyly of the fifth finger, and digitalization of the thumbs, with absence or hypoplasia of the distal phalanges of the ...
Clinical Description OMIM Santos et al. (1981) described an 8-generation Portuguese family in which 12 members had brachydactyly and nail dysplasia. The disorder was characterized by brachydactyly of all fingers and toes except the thumb and big toe and absence of ...
Molecular genetics OMIM In affected members of 4 unrelated families with a phenotype consistent with Cooks syndrome, Kurth et al. (2009) identified overlapping duplications in a 2-Mb interval on chromosome 17q24.3, with a minimal critical area of 1.2 Mb. The region ...