MCID: ANN010
MIFTS: 20

Anonychia-Onychodystrophy with Hypoplasia or Absence of Distal Phalanges

Categories: Rare diseases

Aliases & Classifications for Anonychia-Onychodystrophy with Hypoplasia or Absence of Distal...

MalaCards integrated aliases for Anonychia-Onychodystrophy with Hypoplasia or Absence of Distal Phalanges:

Name: Anonychia-Onychodystrophy with Hypoplasia or Absence of Distal Phalanges 57 53
Cooks Syndrome 57 76 53
Anonychia and Absence/hypoplasia of Distal Phalanges 53

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
anonychia-onychodystrophy with hypoplasia or absence of distal phalanges:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Anonychia-Onychodystrophy with Hypoplasia or Absence of Distal...

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 1487Disease definitionCooks syndrome is a malformation syndrome affecting the apical structures of digits and presenting with hypo/aplasia of nails and distal phalanges. More than half of digits are usually involved and the thumbs may appear digitalized.EpidemiologyTo date, less than 20 individuals have been described in the world literature.Clinical descriptionCooks syndrome is congenital and presents with hypo/anonychia, small or absent distal phalanges and digitalization of the thumbs. Usually, the nails of digits 1-3 are progressively deformed, with anonychia congenita totalis (see this term) in the digits 4-5 and in all toes. Additional features include hypoplasia of the distal phalanges in digits 2-4 with absence of the distal phalanx of digit 5. In the feet, there is absence of all distal phalanges of digits 2-5 with hypoplasia of the distal phalanx of digit 1. Finger pads at the dorsal aspects of the affected fingers may occasionally be seen. To date, no facial dysmorphism has been associated with Cooks syndrome. Cooks syndrome is considered a clinical form of brachydactyly type B (see this term), distinct from the typical variant with sparing or duplication of the thumbs and caused by mutations in the ROR2 gene (9q22).EtiologyThe exact etiology of Cooks syndrome is still unknown but microduplications on chromosome 17q24.3 and involvement of a non-coding element of the SOX9 gene (17q24.3) have recently been associated in some patients with Cooks syndrome. The SOX9 gene is necessary for chondrocyte differentiation and cartilage formation.Genetic counselingAn autosomal dominant mode of inheritance has been proposed. Genetic counseling may be proposed and the recurrence risk is of 50%.Visit the Orphanet disease page for more resources.

MalaCards based summary : Anonychia-Onychodystrophy with Hypoplasia or Absence of Distal Phalanges, also known as cooks syndrome, is related to brachydactyly and brachydactyly, type b1. Affiliated tissues include breast, and related phenotypes are high palate and short philtrum

OMIM : 57 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 hands and feet. Generally the nails of the first to third digits are progressively deformed with total anonychia in the last 2 digits and in all toes (summary by Genzer-Nir et al., 2010). A syndrome has been described in which affected females display juvenile hypertrophy of the breast (JHB; 113670) in association with ODP, whereas males have only ODP (mammary-digital-nail syndrome; 613689). (106995)

Wikipedia : 76 Cooks syndrome is a hereditary disorder which is characterized in the hands by bilateral nail hypoplasia... more...

Related Diseases for Anonychia-Onychodystrophy with Hypoplasia or Absence of Distal...

Diseases related to Anonychia-Onychodystrophy with Hypoplasia or Absence of Distal Phalanges via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 brachydactyly 9.9
2 brachydactyly, type b1 9.8

Symptoms & Phenotypes for Anonychia-Onychodystrophy with Hypoplasia or Absence of Distal...

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Mouth:
short philtrum
high-arched palate

Head And Neck Nose:
prominent nose
high nasal bridge
bulbous tip
hypoplastic alae nasi

Skeletal Hands:
fifth finger brachydactyly
digitalization of thumbs
absent/hypoplastic distal phalanges of hands

Skin Nails Hair Nails:
anonychia
onychodystrophy

Head And Neck Eyes:
downslanting palpebral fissures

Skeletal Feet:
absent/hypoplastic distal phalanges of feet


Clinical features from OMIM:

106995

Human phenotypes related to Anonychia-Onychodystrophy with Hypoplasia or Absence of Distal Phalanges:

32 (show all 20)
# Description HPO Frequency HPO Source Accession
1 high palate 32 HP:0000218
2 short philtrum 32 HP:0000322
3 prominent nasal bridge 32 HP:0000426
4 underdeveloped nasal alae 32 HP:0000430
5 prominent nose 32 HP:0000448
6 downslanted palpebral fissures 32 HP:0000494
7 anonychia 32 HP:0001798
8 nail dysplasia 32 HP:0002164
9 shortening of all distal phalanges of the toes 32 HP:0005793
10 shortening of all distal phalanges of the fingers 32 HP:0006118
11 nail dystrophy 32 HP:0008404
12 short 5th finger 32 HP:0009237
13 complete duplication of thumb phalanx 32 HP:0009943
14 brachydactyly 32 hallmark (90%) HP:0001156
15 split hand 32 hallmark (90%) HP:0001171
16 triphalangeal thumb 32 hallmark (90%) HP:0001199
17 dystrophic toenail 32 hallmark (90%) HP:0001810
18 dystrophic fingernails 32 hallmark (90%) HP:0008391
19 aplastic/hypoplastic toenail 32 hallmark (90%) HP:0010624
20 broad thumb 32 hallmark (90%) HP:0011304

Drugs & Therapeutics for Anonychia-Onychodystrophy with Hypoplasia or Absence of Distal...

Search Clinical Trials , NIH Clinical Center for Anonychia-Onychodystrophy with Hypoplasia or Absence of Distal Phalanges

Genetic Tests for Anonychia-Onychodystrophy with Hypoplasia or Absence of Distal...

Anatomical Context for Anonychia-Onychodystrophy with Hypoplasia or Absence of Distal...

MalaCards organs/tissues related to Anonychia-Onychodystrophy with Hypoplasia or Absence of Distal Phalanges:

41
Breast

Publications for Anonychia-Onychodystrophy with Hypoplasia or Absence of Distal...

Articles related to Anonychia-Onychodystrophy with Hypoplasia or Absence of Distal Phalanges:

# Title Authors Year
1
Congenital anonychia and brachydactyly of the left foot - Cooks syndrome variant: Case report and review of literature. ( 25400355 )
2014
2
Cooks syndrome: a case report and brief review. ( 22329539 )
2013
3
A novel patient with Cooks syndrome supports splitting from "classic" brachydactyly type B. ( 17163524 )
2007
4
Brachydactyly type B with its distinct facies and 'Cooks syndrome' are the same entity. ( 10327250 )
1999

Variations for Anonychia-Onychodystrophy with Hypoplasia or Absence of Distal...

Expression for Anonychia-Onychodystrophy with Hypoplasia or Absence of Distal...

Search GEO for disease gene expression data for Anonychia-Onychodystrophy with Hypoplasia or Absence of Distal Phalanges.

Pathways for Anonychia-Onychodystrophy with Hypoplasia or Absence of Distal...

GO Terms for Anonychia-Onychodystrophy with Hypoplasia or Absence of Distal...

Sources for Anonychia-Onychodystrophy with Hypoplasia or Absence of Distal...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....