MCID: BND017
MIFTS: 18

Bone Dysplasia, Lethal, Holmgren Type

Categories: Bone diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Bone Dysplasia, Lethal, Holmgren Type

MalaCards integrated aliases for Bone Dysplasia, Lethal, Holmgren Type:

Name: Bone Dysplasia, Lethal, Holmgren Type 56
Autosomal Recessive Lethal Chondrodysplasia, Round Femoral Inferior Epiphysis Type 58
Bone Dysplasia, Lethal Holmgren Type 58
Bone Dysplasia Lethal Holmgren Type 52

Characteristics:

Orphanet epidemiological data:

58
bone dysplasia, lethal holmgren type
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal; Age of death: infantile,stillbirth;

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
based on one finnish family


HPO:

31
bone dysplasia, lethal, holmgren type:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


Summaries for Bone Dysplasia, Lethal, Holmgren Type

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1842 Definition Bone dysplasia lethal Holmgren type (BDLH) is a lethal bone dysplasia characterized at birth by low birth weight, a rhizomelic dwarfism, bent femora and short chest producing asphyxia. It was described in three siblings from healthy, non-consanguineous parents of Finnish and in four siblings from non-consanguineous parents of French origin with no family history of dwarfism. The initial cases could have been diagnosed as Desbuquois syndrome , or a recessive Larsen syndrome. There has been no further description of BDLH in the literature since 1988. Visit the Orphanet disease page for more resources.

MalaCards based summary : Bone Dysplasia, Lethal, Holmgren Type, is also known as autosomal recessive lethal chondrodysplasia, round femoral inferior epiphysis type. Affiliated tissues include bone, heart and skin, and related phenotypes are weight loss and respiratory insufficiency

More information from OMIM: 211120

Related Diseases for Bone Dysplasia, Lethal, Holmgren Type

Symptoms & Phenotypes for Bone Dysplasia, Lethal, Holmgren Type

Human phenotypes related to Bone Dysplasia, Lethal, Holmgren Type:

58 31 (show all 40)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 weight loss 58 31 hallmark (90%) Very frequent (99-80%) HP:0001824
2 respiratory insufficiency 58 31 hallmark (90%) Very frequent (99-80%) HP:0002093
3 abnormality of femur morphology 58 31 hallmark (90%) Very frequent (99-80%) HP:0002823
4 narrow chest 58 31 hallmark (90%) Very frequent (99-80%) HP:0000774
5 micromelia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002983
6 rhizomelia 58 31 hallmark (90%) Very frequent (99-80%) HP:0008905
7 severe short-limb dwarfism 58 31 hallmark (90%) Very frequent (99-80%) HP:0008890
8 short ribs 58 31 hallmark (90%) Very frequent (99-80%) HP:0000773
9 short neck 58 31 frequent (33%) Frequent (79-30%) HP:0000470
10 muscular hypotonia 58 31 frequent (33%) Frequent (79-30%) HP:0001252
11 anteverted nares 58 31 frequent (33%) Frequent (79-30%) HP:0000463
12 abnormal thumb morphology 58 31 frequent (33%) Frequent (79-30%) HP:0001172
13 frontal bossing 58 31 frequent (33%) Frequent (79-30%) HP:0002007
14 hearing abnormality 58 31 frequent (33%) Frequent (79-30%) HP:0000364
15 flat face 58 31 frequent (33%) Frequent (79-30%) HP:0012368
16 joint dislocation 58 31 frequent (33%) Frequent (79-30%) HP:0001373
17 depressed nasal ridge 58 31 frequent (33%) Frequent (79-30%) HP:0000457
18 joint hyperflexibility 58 31 frequent (33%) Frequent (79-30%) HP:0005692
19 abnormality of epiphysis morphology 58 31 frequent (33%) Frequent (79-30%) HP:0005930
20 high forehead 58 31 frequent (33%) Frequent (79-30%) HP:0000348
21 abnormality of the elbow 58 31 frequent (33%) Frequent (79-30%) HP:0009811
22 abnormal diaphysis morphology 58 31 frequent (33%) Frequent (79-30%) HP:0000940
23 metaphyseal dysplasia 58 31 frequent (33%) Frequent (79-30%) HP:0100255
24 bell-shaped thorax 58 31 frequent (33%) Frequent (79-30%) HP:0001591
25 hepatomegaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0002240
26 recurrent respiratory infections 58 31 occasional (7.5%) Occasional (29-5%) HP:0002205
27 failure to thrive 58 31 occasional (7.5%) Occasional (29-5%) HP:0001508
28 hypertrophic cardiomyopathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0001639
29 anemia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001903
30 hernia 58 31 occasional (7.5%) Occasional (29-5%) HP:0100790
31 nausea and vomiting 58 31 occasional (7.5%) Occasional (29-5%) HP:0002017
32 atrial septal defect 58 31 occasional (7.5%) Occasional (29-5%) HP:0001631
33 patent ductus arteriosus 58 31 occasional (7.5%) Occasional (29-5%) HP:0001643
34 talipes 58 31 occasional (7.5%) Occasional (29-5%) HP:0001883
35 diarrhea 58 31 occasional (7.5%) Occasional (29-5%) HP:0002014
36 redundant neck skin 58 31 occasional (7.5%) Occasional (29-5%) HP:0005989
37 skeletal dysplasia 58 31 Very frequent (99-80%) HP:0002652
38 short stature 31 HP:0004322
39 malformation of the heart and great vessels 58 Frequent (79-30%)
40 abnormality of the hand 58 Occasional (29-5%)

Symptoms via clinical synopsis from OMIM:

56
Respiratory:
respiratory insufficiency

Chest Ribs Sternum Clavicles And Scapulae:
short ribs

Growth Height:
birth length less than 38 cm

Chest External Features:
narrow chest
bell-shaped thorax

Skeletal Spine:
normal spine

Skeletal Limbs:
short arms, especially in the proximal part
short legs, especially in the proximal part
short femora
knobby, rounded ends of femora and radii
femora bent in lateral-convex position

Clinical features from OMIM:

211120

Drugs & Therapeutics for Bone Dysplasia, Lethal, Holmgren Type

Search Clinical Trials , NIH Clinical Center for Bone Dysplasia, Lethal, Holmgren Type

Genetic Tests for Bone Dysplasia, Lethal, Holmgren Type

Anatomical Context for Bone Dysplasia, Lethal, Holmgren Type

MalaCards organs/tissues related to Bone Dysplasia, Lethal, Holmgren Type:

40
Bone, Heart, Skin

Publications for Bone Dysplasia, Lethal, Holmgren Type

Variations for Bone Dysplasia, Lethal, Holmgren Type

Expression for Bone Dysplasia, Lethal, Holmgren Type

Search GEO for disease gene expression data for Bone Dysplasia, Lethal, Holmgren Type.

Pathways for Bone Dysplasia, Lethal, Holmgren Type

GO Terms for Bone Dysplasia, Lethal, Holmgren Type

Sources for Bone Dysplasia, Lethal, Holmgren Type

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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