MCID: TBB005
MIFTS: 17

Tibia, Absence or Hypoplasia of, with Polydactyly, Retrocerebellar Arachnoid Cyst, and Other Anomalies

Categories: Bone diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Tibia, Absence or Hypoplasia of, with Polydactyly,...

MalaCards integrated aliases for Tibia, Absence or Hypoplasia of, with Polydactyly, Retrocerebellar Arachnoid Cyst, and Other Anomalies:

Name: Tibia, Absence or Hypoplasia of, with Polydactyly, Retrocerebellar Arachnoid Cyst, and Other Anomalies 56 52
Absence/hypoplasia of Tibia, Polydactyly, Retrocerebellar Arachnoid Cyst, and Other Anomalies 52
Absent Tibia-Polydactyly-Arachnoid Cyst Syndrome 58
Tibia Absent Polydactyly Arachnoid Cyst 52
Holmes Collins Syndrome 52
Holmes-Collins Syndrome 58

Characteristics:

Orphanet epidemiological data:

58
absent tibia-polydactyly-arachnoid cyst syndrome
Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

56
Inheritance:
autosomal recessive.


HPO:

31
tibia, absence or hypoplasia of, with polydactyly, retrocerebellar arachnoid cyst, and other anomalies:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM 56 601027
MESH via Orphanet 44 C536918
UMLS via Orphanet 72 C2931368
Orphanet 58 ORPHA3328
MedGen 41 C1832859

Summaries for Tibia, Absence or Hypoplasia of, with Polydactyly,...

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 3328 Definition Tibia absent - polydactyly - arachnoid cyst syndrome is a very rare constellation of multiple anomalies, including absence or hypoplasia of the tibia. Epidemiology It has been described in 3 sibs (two males and one female). Clinical description The syndrome is characterized by absence or hypoplasia of the tibia, pre and postaxial polydactyly of the hands and/or feet, syndactyly of the toes, shortening and bowing of other long bones, and retrocerebellar arachnoid cyst. Genetic counseling Parental consanguinity reported in the family suggests an autosomal recessive pattern of inheritance. Visit the Orphanet disease page for more resources.

MalaCards based summary : Tibia, Absence or Hypoplasia of, with Polydactyly, Retrocerebellar Arachnoid Cyst, and Other Anomalies, also known as absence/hypoplasia of tibia, polydactyly, retrocerebellar arachnoid cyst, and other anomalies, is related to arachnoid cysts, intracranial and polydactyly. Affiliated tissues include bone, and related phenotypes are talipes equinovarus and cleft upper lip

More information from OMIM: 601027

Related Diseases for Tibia, Absence or Hypoplasia of, with Polydactyly,...

Diseases related to Tibia, Absence or Hypoplasia of, with Polydactyly, Retrocerebellar Arachnoid Cyst, and Other Anomalies via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 arachnoid cysts, intracranial 10.6
2 polydactyly 10.6
3 autosomal recessive disease 10.6

Symptoms & Phenotypes for Tibia, Absence or Hypoplasia of, with Polydactyly,...

Human phenotypes related to Tibia, Absence or Hypoplasia of, with Polydactyly, Retrocerebellar Arachnoid Cyst, and Other Anomalies:

31 (show all 11)
# Description HPO Frequency HPO Source Accession
1 talipes equinovarus 31 HP:0001762
2 cleft upper lip 31 HP:0000204
3 abnormality of the thorax 31 HP:0000765
4 postaxial foot polydactyly 31 HP:0001830
5 radial bowing 31 HP:0002986
6 aplasia/hypoplasia of the tibia 31 HP:0005772
7 preaxial foot polydactyly 31 HP:0001841
8 choroid plexus cyst 31 HP:0002190
9 arachnoid cyst 31 HP:0100702
10 posterior fossa cyst 31 HP:0007291
11 agenesis of the diaphragm 31 HP:0008986

Symptoms via clinical synopsis from OMIM:

56
Limbs:
absent/hypoplastic tibia. bowed radius and ulna. postaxial polydactyly of hands. postaxial polydactyly of feet. preaxial polydactyly of feet. clubfoot.

Thorax:
absent diaphragm.

Mouth:
cleft lip.

Neuro:
posterior fossa cyst. choroid plexus cyst.

Clinical features from OMIM:

601027

Drugs & Therapeutics for Tibia, Absence or Hypoplasia of, with Polydactyly,...

Search Clinical Trials , NIH Clinical Center for Tibia, Absence or Hypoplasia of, with Polydactyly, Retrocerebellar Arachnoid Cyst, and Other Anomalies

Genetic Tests for Tibia, Absence or Hypoplasia of, with Polydactyly,...

Anatomical Context for Tibia, Absence or Hypoplasia of, with Polydactyly,...

MalaCards organs/tissues related to Tibia, Absence or Hypoplasia of, with Polydactyly, Retrocerebellar Arachnoid Cyst, and Other Anomalies:

40
Bone

Publications for Tibia, Absence or Hypoplasia of, with Polydactyly,...

Articles related to Tibia, Absence or Hypoplasia of, with Polydactyly, Retrocerebellar Arachnoid Cyst, and Other Anomalies:

# Title Authors PMID Year
1
Absence/hypoplasia of tibia, polydactyly, retrocerebellar arachnoid cyst, and other anomalies: an autosomal recessive disorder. 56 61
8592337 1995

Variations for Tibia, Absence or Hypoplasia of, with Polydactyly,...

Expression for Tibia, Absence or Hypoplasia of, with Polydactyly,...

Search GEO for disease gene expression data for Tibia, Absence or Hypoplasia of, with Polydactyly, Retrocerebellar Arachnoid Cyst, and Other Anomalies.

Pathways for Tibia, Absence or Hypoplasia of, with Polydactyly,...

GO Terms for Tibia, Absence or Hypoplasia of, with Polydactyly,...

Sources for Tibia, Absence or Hypoplasia of, with Polydactyly,...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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