MCID: ASS004
MIFTS: 27

Aase-Smith Syndrome I

Categories: Bone diseases, Fetal diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Aase-Smith Syndrome I

MalaCards integrated aliases for Aase-Smith Syndrome I:

Name: Aase-Smith Syndrome I 56 52
Aase-Smith Syndrome 56 74 58
Hydrocephalus-Cleft Palate-Joint Contractures Syndrome 52 58
Joint Contractures with Other Abnormalities 56 52
Aase-Smith I Syndrome 58
Aase Smith Syndrome 71

Characteristics:

Orphanet epidemiological data:

58
aase-smith syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal;

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
stillborn or death in infancy


HPO:

31
aase-smith syndrome i:
Clinical modifier death in infancy
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


Summaries for Aase-Smith Syndrome I

NIH Rare Diseases : 52 Hydrocephalus -cleft palate -joint contractures syndrome is a rare genetic disorder characterized by a buildup of fluid in the brain (hydrocephalus) due to a brain abnormality called Dandy-Walker malformation , cleft palate , and stiff or "frozen" joints (contractures). Less than 20 cases of hydrocephalus-cleft palate-joint contractures syndrome have been reported. Other symptoms might include: thin fingers with absent knuckles and reduced creases over the joints, ear abnormalities, heart defects, and clubfoot . The cause of hydrocephalus-cleft palate-joint contractures syndrome is not known, but it is likely genetic due to reports of affected family members and likely autosomal dominant inheritance. Treatment is specific to the symptoms present in each individual and might include surgical correction of birth defects such as cleft palate and clubfoot.

MalaCards based summary : Aase-Smith Syndrome I, also known as aase-smith syndrome, is related to diamond-blackfan anemia 1 and diamond-blackfan anemia 6. Affiliated tissues include brain, bone and heart, and related phenotypes are scoliosis and joint stiffness

Wikipedia : 74 Aase syndrome or Aase-Smith syndrome is a rare inherited disorder characterized by anemia with some... more...

More information from OMIM: 147800

Related Diseases for Aase-Smith Syndrome I

Diseases related to Aase-Smith Syndrome I via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 16)
# Related Disease Score Top Affiliating Genes
1 diamond-blackfan anemia 1 12.3
2 diamond-blackfan anemia 6 11.8
3 diamond-blackfan anemia 11.7
4 cleft palate, isolated 10.5
5 dandy-walker syndrome 10.4
6 alkuraya-kucinskas syndrome 10.4
7 distal arthrogryposis 10.4
8 congenital amyoplasia 10.4
9 arthrogryposis, distal, type 3 10.3
10 hypertelorism 10.3
11 anemia, x-linked, with or without neutropenia and/or platelet abnormalities 10.3
12 polydactyly 10.3
13 deficiency anemia 10.3
14 microcephaly 10.3
15 neutropenia 10.3
16 red cell aplasia 10.3

Graphical network of the top 20 diseases related to Aase-Smith Syndrome I:



Diseases related to Aase-Smith Syndrome I

Symptoms & Phenotypes for Aase-Smith Syndrome I

Human phenotypes related to Aase-Smith Syndrome I:

58 31 (show all 20)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 scoliosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0002650
2 joint stiffness 58 31 hallmark (90%) Very frequent (99-80%) HP:0001387
3 cleft palate 58 31 hallmark (90%) Very frequent (99-80%) HP:0000175
4 abnormality of the hip bone 58 31 hallmark (90%) Very frequent (99-80%) HP:0003272
5 multiple joint contractures 58 31 hallmark (90%) Very frequent (99-80%) HP:0002828
6 dandy-walker malformation 58 31 hallmark (90%) Very frequent (99-80%) HP:0001305
7 trismus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000211
8 camptodactyly of finger 58 31 hallmark (90%) Very frequent (99-80%) HP:0100490
9 abnormality of the pinna 58 31 hallmark (90%) Very frequent (99-80%) HP:0000377
10 talipes equinovarus 58 31 frequent (33%) Frequent (79-30%) HP:0001762
11 aplasia/hypoplasia of the radius 58 31 frequent (33%) Frequent (79-30%) HP:0006501
12 strabismus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000486
13 neoplasm 58 31 occasional (7.5%) Occasional (29-5%) HP:0002664
14 slender finger 58 31 occasional (7.5%) Occasional (29-5%) HP:0001238
15 hydrocephalus 31 HP:0000238
16 flexion contracture 31 HP:0001371
17 ptosis 31 HP:0000508
18 open mouth 31 HP:0000194
19 ventricular septal defect 31 HP:0001629
20 congenital neuroblastoma 31 HP:0006742

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Mouth:
cleft palate
limitation in ability to open mouth

Skeletal Feet:
talipes equinovarus

Head And Neck Ears:
deformed ears

Chest Ribs Sternum Clavicles And Scapulae:
single sternal ossification center

Skeletal Hands:
thin fingers with absent knuckles
reduced interphalangeal creases
inability to make a complete fist

Neurologic Central Nervous System:
hydrocephalus (dandy-walker anomaly)

Head And Neck Eyes:
ptosis

Neoplasia:
congenital neuroblastoma

Cardiovascular Heart:
multiple ventricular septal defects

Skeletal:
joint contractures, congenital, severe

Skin Nails Hair Skin:
hypoplastic dermal ridges

Clinical features from OMIM:

147800

Drugs & Therapeutics for Aase-Smith Syndrome I

Search Clinical Trials , NIH Clinical Center for Aase-Smith Syndrome I

Genetic Tests for Aase-Smith Syndrome I

Anatomical Context for Aase-Smith Syndrome I

MalaCards organs/tissues related to Aase-Smith Syndrome I:

40
Brain, Bone, Heart, Bone Marrow

Publications for Aase-Smith Syndrome I

Articles related to Aase-Smith Syndrome I:

(show all 13)
# Title Authors PMID Year
1
A family with distal arthrogryposis and cleft palate: possible overlap between Gordon syndrome and Aase-Smith syndrome. 56 61
11152147 2001
2
The Aase-Smith syndrome. 56 61
4075562 1985
3
Dysmorphogenesis of joints, brain, and palate: a new dominantly inherited syndrome. 56
5678002 1968
4
Neuroblastoma, Ganglioneuroma and Fibroneuroma in a Stillborn Fetus. 56
19970612 1942
5
Limb anomalies and anemia: Aase-Smith syndrome. 61
19065327 2008
6
Aase-Smith syndrome type II. 61
15711686 2004
7
Favorable effect of splenectomy over a five year follow-up in a patient with Aase-Smith syndrome. 61
12414360 2002
8
[Aase-Smith syndrome]. 61
11462719 2001
9
Occurrence of Dandy-Walker anomaly in a familial case of distal arthogryposis type IIB. 61
11146470 2000
10
Nosology of fetal hypokinesia sequence based on CNS abnormalities: is there an Aase-Smith syndrome? 61
9001811 1996
11
Aase-Smith syndrome: report of a new case with unusual features. 61
7974814 1994
12
Heterogeneity of the erythropoietic defect in two cases of Aase-Smith syndrome. 61
8204444 1994
13
Aase-Smith syndrome: report of a new case. 61
3179220 1988

Variations for Aase-Smith Syndrome I

Expression for Aase-Smith Syndrome I

Search GEO for disease gene expression data for Aase-Smith Syndrome I.

Pathways for Aase-Smith Syndrome I

GO Terms for Aase-Smith Syndrome I

Sources for Aase-Smith Syndrome I

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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