MCID: CRN269
MIFTS: 16

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 58
Cataract-Congenital Heart Disease-Neural Tube Defect Syndrome 60

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
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,...

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

33 (show all 19)
# Description HPO Frequency HPO Source Accession
1 muscular hypotonia 33 HP:0001252
2 scoliosis 33 HP:0002650
3 cataract 33 HP:0000518
4 global developmental delay 33 HP:0001263
5 delayed skeletal maturation 33 HP:0002750
6 abnormal facial shape 33 HP:0001999
7 hypertonia 33 HP:0001276
8 micrognathia 33 HP:0000347
9 thick lower lip vermilion 33 HP:0000179
10 atrial septal defect 33 HP:0001631
11 inverted nipples 33 HP:0003186
12 short philtrum 33 HP:0000322
13 glaucoma 33 HP:0000501
14 ventricular septal defect 33 HP:0001629
15 low anterior hairline 33 HP:0000294
16 sacral dimple 33 HP:0000960
17 central hypotonia 33 HP:0011398
18 hypermetropia 33 HP:0000540
19 widely-spaced maxillary central incisors 33 HP:0001566

Symptoms via clinical synopsis from OMIM:

58
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

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:

42
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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....