MCID: ANN010
MIFTS: 21

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 53 49
Cooks Syndrome 53 72 49
Anonychia and Absence/hypoplasia of Distal Phalanges 49

Characteristics:

OMIM:

53
Inheritance:
autosomal dominant


HPO:

31
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 : 49 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. Last updated: 11/1/2014

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, and has symptoms including high palate, broad thumb and nail dystrophy. Affiliated tissues include breast.

OMIM : 53 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 : 72 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
3 ayme-gripp syndrome 9.7

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

Symptoms via clinical synopsis from OMIM:

53
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:

31 (show all 20)
# Description HPO Frequency HPO Source Accession
1 high palate 31 HP:0000218
2 broad thumb 31 hallmark (90%) HP:0011304
3 nail dystrophy 31 HP:0008404
4 prominent nasal bridge 31 HP:0000426
5 underdeveloped nasal alae 31 HP:0000430
6 short philtrum 31 HP:0000322
7 downslanted palpebral fissures 31 HP:0000494
8 brachydactyly 31 hallmark (90%) HP:0001156
9 anonychia 31 HP:0001798
10 split hand 31 hallmark (90%) HP:0001171
11 nail dysplasia 31 HP:0002164
12 triphalangeal thumb 31 hallmark (90%) HP:0001199
13 complete duplication of thumb phalanx 31 HP:0009943
14 prominent nose 31 HP:0000448
15 dystrophic toenail 31 hallmark (90%) HP:0001810
16 aplastic/hypoplastic toenail 31 hallmark (90%) HP:0010624
17 dystrophic fingernails 31 hallmark (90%) HP:0008391
18 short 5th finger 31 HP:0009237
19 shortening of all distal phalanges of the toes 31 HP:0005793
20 shortening of all distal phalanges of the fingers 31 HP:0006118

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:

38
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
A novel patient with Cooks syndrome supports splitting from "classic" brachydactyly type B. ( 17163524 )
2007
3
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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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