Non-rhizomelic chondrodysplasia punctata

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 72
OrphanetNr: 176
OMIM Id:
ICD-10: Q77.3
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
Autosomal recessive
X-linked recessive
X-linked dominant
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Chondrodysplasia punctata
 -Rare bone disease
 -Rare developmental defect during embryogenesis
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000078) Abnormality of the genital system Very frequent [Orphanet] 33 / 7739
2
 (HPO:0000072) Hydroureter Occasional [Orphanet] 146 / 7739
3
 (HPO:0000054) Micropenis Occasional [Orphanet] 257 / 7739
4
 (HPO:0000107) Renal cyst Very frequent [Orphanet] 126 / 7739
5
 (HPO:0000463) Anteverted nares Very frequent [Orphanet] 305 / 7739
6
 (HPO:0000664) Synophrys Very frequent [Orphanet] 112 / 7739
7
 (HPO:0002002) Deep philtrum Frequent [Orphanet] 42 / 7739
8
 (HPO:0000582) Upslanted palpebral fissure Occasional [Orphanet] 185 / 7739
9
 (HPO:0002007) Frontal bossing Occasional [Orphanet] 366 / 7739
10
 (HPO:0005280) Depressed nasal bridge Occasional [Orphanet] 381 / 7739
11
 (HPO:0003196) Short nose Very frequent [Orphanet] 264 / 7739
12
 (HPO:0012368) Flat face Very frequent [Orphanet] 106 / 7739
13
 (HPO:0010650) Hypoplasia of the premaxilla Very frequent [Orphanet] 39 / 7739
14
 (HPO:0000248) Brachycephaly Very frequent [Orphanet] 222 / 7739
15
 (HPO:0000308) Microretrognathia Very frequent [Orphanet] 78 / 7739
16
 (HPO:0000311) Round face Frequent [Orphanet] 104 / 7739
17
 (HPO:0000316) Hypertelorism Occasional [Orphanet] 644 / 7739
18
 (HPO:0010804) Tented upper lip vermilion Occasional [Orphanet] 47 / 7739
19
 (HPO:0000470) Short neck Occasional [Orphanet] 345 / 7739
20
 (HPO:0000457) Depressed nasal ridge Very frequent [Orphanet] 85 / 7739
21
 (HPO:0000343) Long philtrum Frequent [Orphanet] 262 / 7739
22
 (HPO:0000436) Abnormality of the nasal tip Very frequent [Orphanet] 18 / 7739
23
 (HPO:0000272) Malar flattening Very frequent [Orphanet] 277 / 7739
24
 (HPO:0000286) Epicanthus Frequent [Orphanet] 371 / 7739
25
 (HPO:0000479) Abnormality of the retina Frequent [Orphanet] 74 / 7739
26
 (HPO:0000612) Iris coloboma Very frequent [Orphanet] 116 / 7739
27
 (HPO:0000518) Cataract Occasional [Orphanet] 454 / 7739
28
 (HPO:0000486) Strabismus Occasional [Orphanet] 576 / 7739
29
 (HPO:0000639) Nystagmus Occasional [Orphanet] 555 / 7739
30
 (HPO:0000405) Conductive hearing impairment Very frequent [Orphanet] 164 / 7739
31
 (HPO:0000357) Abnormal location of ears Occasional [Orphanet] 328 / 7739
32
 (HPO:0003312) Abnormal form of the vertebral bodies Frequent [Orphanet] 172 / 7739
33
 (HPO:0005930) Abnormality of epiphysis morphology Very frequent [Orphanet] 119 / 7739
34
 (HPO:0001387) Joint stiffness Frequent [Orphanet] 322 / 7739
35
 (HPO:0003468) Abnormality of the vertebrae Very frequent [Orphanet] 77 / 7739
36
 (HPO:0010655) Epiphyseal stippling Very frequent [Orphanet] 32 / 7739
37
 (HPO:0001163) Abnormality of the metacarpal bones Very frequent [Orphanet] 149 / 7739
38
 (HPO:0011849) Abnormal bone ossification Very frequent [Orphanet] 35 / 7739
39
 (HPO:0001172) Abnormality of the thumb Occasional [Orphanet] 103 / 7739
40
 (HPO:0003298) Spina bifida occulta Frequent [Orphanet] 67 / 7739
41
 (HPO:0002650) Scoliosis Occasional [Orphanet] 705 / 7739
42
 (HPO:0001167) Abnormality of finger Very frequent [Orphanet] 29 / 7739
43
 (HPO:0006487) Bowing of the long bones Frequent [Orphanet] 95 / 7739
44
 (HPO:0000767) Pectus excavatum Occasional [Orphanet] 244 / 7739
45
 (HPO:0004279) Short palm Very frequent [Orphanet] 323 / 7739
46
 (HPO:0001385) Hip dysplasia Frequent [Orphanet] 242 / 7739
47
 (HPO:0004209) Clinodactyly of the 5th finger Very frequent [Orphanet] 288 / 7739
48
 (HPO:0001162) Postaxial hand polydactyly Occasional [Orphanet] 119 / 7739
49
 (HPO:0002750) Delayed skeletal maturation Very frequent [Orphanet] 250 / 7739
50
 (HPO:0002983) Micromelia Very frequent [Orphanet] 130 / 7739
51
 (HPO:0009882) Short distal phalanx of finger Frequent [Orphanet] 125 / 7739
52
 (HPO:0001622) Premature birth Very frequent [Orphanet] 100 / 7739
53
 (HPO:0001561) Polyhydramnios Frequent [Orphanet] 191 / 7739
54
 (HPO:0002240) Hepatomegaly Occasional [Orphanet] 467 / 7739
55
 (HPO:0001744) Splenomegaly Occasional [Orphanet] 337 / 7739
56
 (HPO:0100555) Asymmetric growth Frequent [Orphanet] 25 / 7739
57
 (HPO:0001511) Intrauterine growth retardation Frequent [Orphanet] 358 / 7739
58
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
59
 (HPO:0004325) Decreased body weight Occasional [Orphanet] 492 / 7739
60
 (HPO:0000965) Cutis marmorata Occasional [Orphanet] 46 / 7739
61
 (HPO:0001006) Hypotrichosis Occasional [Orphanet] 219 / 7739
62
 (HPO:0001231) Abnormality of the fingernails Occasional [Orphanet] 116 / 7739
63
 (HPO:0001800) Hypoplastic toenails Frequent [Orphanet] 74 / 7739
64
 (HPO:0008064) Ichthyosis Frequent [Orphanet] 108 / 7739
65
 (HPO:0030680) Abnormality of cardiovascular system morphology Occasional [Orphanet] 355 / 7739
66
 (HPO:0003220) Abnormality of chromosome stability Very frequent [Orphanet] 98 / 7739
67
 (HPO:0002093) Respiratory insufficiency Frequent [Orphanet] 410 / 7739
68
 (HPO:0001601) Laryngomalacia Very frequent [Orphanet] 61 / 7739
69
 (HPO:0001252) Muscular hypotonia Very frequent [Orphanet] 990 / 7739
70
 (HPO:0011420) Death Occasional [Orphanet] 184 / 7739
71
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
72
 (HPO:0012795) Abnormality of the optic disc Occasional [Orphanet] 187 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: