Bone dysplasia, lethal Holmgren type

General Information (adopted from Orphanet):

Synonyms, Signs: Autosomal recessive lethal chondrodysplasia, round femoral inferior epiphysis type
Number of Symptoms 47
OrphanetNr: 1842
OMIM Id: 211120
ICD-10: Q77.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 4 cases [Orphanet]
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Antenatal
Neonatal
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Lethal chondrodysplasia
 -Rare bone disease
 -Rare developmental defect during embryogenesis
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0002007) Frontal bossing Frequent [Orphanet] 366 / 7739
2
 (HPO:0000457) Depressed nasal ridge Frequent [Orphanet] 85 / 7739
3
 (HPO:0005989) Redundant neck skin Occasional [Orphanet] 40 / 7739
4
 (HPO:0012368) Flat face Frequent [Orphanet] 106 / 7739
5
 (HPO:0000348) High forehead Frequent [Orphanet] 157 / 7739
6
 (HPO:0000463) Anteverted nares Frequent [Orphanet] 305 / 7739
7
 (HPO:0000470) Short neck Frequent [Orphanet] 345 / 7739
8
 (HPO:0000598) Abnormality of the ear Frequent [Orphanet] 98 / 7739
9
 (HPO:0001155) Abnormality of the hand Occasional [Orphanet] 54 / 7739
10
 (HPO:0006644) Thoracic dysplasia 12 / 7739
11
 (HPO:0008905) Rhizomelia Very frequent [Orphanet] 85 / 7739
12
 (HPO:0002823) Abnormality of the femur Very frequent [Orphanet] 61 / 7739
13
 (HPO:0002652) Skeletal dysplasia Very frequent [Orphanet] 113 / 7739
14
 (HPO:0001373) Joint dislocation Frequent [Orphanet] 59 / 7739
15
 (HPO:0001591) Bell-shaped thorax 35 / 7739
16
 (HPO:0003468) Abnormality of the vertebrae Frequent [Orphanet] 77 / 7739
17
 (HPO:0005930) Abnormality of epiphysis morphology Frequent [Orphanet] 119 / 7739
18
 (HPO:0000944) Abnormality of the metaphyses Frequent [Orphanet] 141 / 7739
19
 (HPO:0001382) Joint hypermobility Frequent [Orphanet] 231 / 7739
20
 (HPO:0009811) Abnormality of the elbow Frequent [Orphanet] 30 / 7739
21
 (HPO:0001762) Talipes equinovarus Occasional [Orphanet] 309 / 7739
22
 (HPO:0000940) Abnormal diaphysis morphology Frequent [Orphanet] 41 / 7739
23
 (HPO:0000773) Short ribs 70 / 7739
24
 (HPO:0000772) Abnormality of the ribs Very frequent [Orphanet] 146 / 7739
25
 (HPO:0000774) Narrow chest Very frequent [Orphanet] 167 / 7739
26
 (HPO:0002983) Micromelia Very frequent [Orphanet] 130 / 7739
27
 (HPO:0001172) Abnormality of the thumb Frequent [Orphanet] 103 / 7739
28
 (HPO:0004299) Hernia of the abdominal wall Occasional [Orphanet] 176 / 7739
29
 (HPO:0002017) Nausea and vomiting Occasional [Orphanet] 134 / 7739
30
 (HPO:0002240) Hepatomegaly Occasional [Orphanet] 467 / 7739
31
 (HPO:0002014) Diarrhea Occasional [Orphanet] 225 / 7739
32
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
33
 (HPO:0004325) Decreased body weight Occasional [Orphanet] 492 / 7739
34
 (HPO:0001052) Nevus flammeus Occasional [Orphanet] 88 / 7739
35
 (HPO:0001638) Cardiomyopathy Occasional [Orphanet] 192 / 7739
36
 (HPO:0030680) Abnormality of cardiovascular system morphology Frequent [Orphanet] 355 / 7739
37
 (HPO:0001631) Atria septal defect Occasional [Orphanet] 274 / 7739
38
 (HPO:0001643) Patent ductus arteriosus Occasional [Orphanet] 228 / 7739
39
 (HPO:0001903) Anemia Occasional [Orphanet] 289 / 7739
40
 (HPO:0002205) Recurrent respiratory infections Occasional [Orphanet] 254 / 7739
41
 (HPO:0002093) Respiratory insufficiency Occasional [Orphanet] 410 / 7739
42
 (HPO:0001252) Muscular hypotonia Frequent [Orphanet] 990 / 7739
43
 (OMIM) Knobby, rounded ends of femurs and radii 1 / 7739
44
 (OMIM) Short 4 / 7739
45
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
46
 (HPO:0011420) Death Very frequent [Orphanet] 184 / 7739
47
 (OMIM) Semi-lethal 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: