MCID: CRN269
MIFTS: 17

Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, and Growth and Developmental Retardation

Categories: Eye diseases, Fetal diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Craniofacial Abnormalities, Cataracts, Congenital Heart Disease,...

MalaCards integrated aliases for Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, and Growth and Developmental Retardation:

Name: Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, and Growth and Developmental Retardation 57
Cataract-Congenital Heart Disease-Neural Tube Defect Syndrome 59

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
craniofacial abnormalities, cataracts, congenital heart disease, sacral neural tube defects, and growth and developmental retardation:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Craniofacial Abnormalities, Cataracts, Congenital Heart Disease,...

MalaCards based summary : Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, and Growth and Developmental Retardation, is also known as cataract-congenital heart disease-neural tube defect syndrome. Affiliated tissues include heart, bone and eye, and related phenotypes are muscular hypotonia and scoliosis

Description from OMIM: 608227

Related Diseases for Craniofacial Abnormalities, Cataracts, Congenital Heart Disease,...

Symptoms & Phenotypes for Craniofacial Abnormalities, Cataracts, Congenital Heart Disease,...

Symptoms via clinical synopsis from OMIM:

57
Skeletal Spine:
scoliosis
tethered spinal cord
compression deformities of the spine

Cardiovascular Heart:
atrial septal defect
ventricular septal defect

Skin Nails Hair Hair:
low anterior hairline

Neurologic Central Nervous System:
central hypotonia
developmental delay
peripheral hypertonia

Head And Neck Eyes:
hyperopia
cataracts, rapid-onset
aphakic glaucoma

Head And Neck Teeth:
prominent widely-spaced incisors

Head And Neck Face:
micrognathia
short philtrum
low anterior hairline

Chest Breasts:
inverted nipples

Skin Nails Hair Skin:
sacral dimple

Skeletal:
delayed bone age
decreased bone density

Head And Neck Mouth:
full lips


Clinical features from OMIM:

608227

Human phenotypes related to Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, and Growth and Developmental Retardation:

32 (show all 19)
# Description HPO Frequency HPO Source Accession
1 muscular hypotonia 32 HP:0001252
2 scoliosis 32 HP:0002650
3 cataract 32 HP:0000518
4 global developmental delay 32 HP:0001263
5 delayed skeletal maturation 32 HP:0002750
6 abnormal facial shape 32 HP:0001999
7 hypertonia 32 HP:0001276
8 micrognathia 32 HP:0000347
9 thick lower lip vermilion 32 HP:0000179
10 atrial septal defect 32 HP:0001631
11 inverted nipples 32 HP:0003186
12 short philtrum 32 HP:0000322
13 glaucoma 32 HP:0000501
14 ventricular septal defect 32 HP:0001629
15 low anterior hairline 32 HP:0000294
16 sacral dimple 32 HP:0000960
17 central hypotonia 32 HP:0011398
18 hypermetropia 32 HP:0000540
19 widely-spaced maxillary central incisors 32 HP:0001566

Drugs & Therapeutics for Craniofacial Abnormalities, Cataracts, Congenital Heart Disease,...

Search Clinical Trials , NIH Clinical Center for Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, and Growth and Developmental Retardation

Genetic Tests for Craniofacial Abnormalities, Cataracts, Congenital Heart Disease,...

Anatomical Context for Craniofacial Abnormalities, Cataracts, Congenital Heart Disease,...

MalaCards organs/tissues related to Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, and Growth and Developmental Retardation:

41
Heart, Bone, Eye, Spinal Cord

Publications for Craniofacial Abnormalities, Cataracts, Congenital Heart Disease,...

Variations for Craniofacial Abnormalities, Cataracts, Congenital Heart Disease,...

Expression for Craniofacial Abnormalities, Cataracts, Congenital Heart Disease,...

Search GEO for disease gene expression data for Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, and Growth and Developmental Retardation.

Pathways for Craniofacial Abnormalities, Cataracts, Congenital Heart Disease,...

GO Terms for Craniofacial Abnormalities, Cataracts, Congenital Heart Disease,...

Sources for Craniofacial Abnormalities, Cataracts, Congenital Heart Disease,...

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
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