Mesomelic dwarfism, Nievergelt type

General Information (adopted from Orphanet):

Synonyms, Signs: MESOMELIC DYSPLASIA, NIEVERGELT TYPE
Nievergelt syndrome
Number of Symptoms 39
OrphanetNr: 2633
OMIM Id: 163400
ICD-10: Q78.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
[Orphanet]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Mesomelic and rhizo-mesomelic dysplasia
 -Rare bone disease
 -Rare developmental defect during embryogenesis
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
(HPO:0100729) Large face Occasional [Orphanet] 19 / 7739
2
(HPO:0000268) Dolichocephaly Occasional [Orphanet] 144 / 7739
3
(HPO:0000248) Brachycephaly Occasional [Orphanet] 222 / 7739
4
(HPO:0000486) Strabismus Occasional [Orphanet] 576 / 7739
5
(HPO:0002997) Abnormality of the ulna Very frequent [Orphanet] 75 / 7739
6
(HPO:0002974) Radioulnar synostosis Very frequent [Orphanet] 52 / 7739
7
(HPO:0001850) Abnormality of the tarsal bones Very frequent [Orphanet] 40 / 7739
8
(HPO:0003019) Abnormality of the wrist Occasional [Orphanet] 52 / 7739
9
(HPO:0003048) Radial head subluxation 6 / 7739
10
(HPO:0001762) Talipes equinovarus 309 / 7739
11
(HPO:0003042) Elbow dislocation Very frequent [Orphanet] 89 / 7739
12
(HPO:0006101) Finger syndactyly Occasional [Orphanet] 198 / 7739
13
(HPO:0002991) Abnormality of the fibula Very frequent [Orphanet] 49 / 7739
14
(HPO:0001440) Metatarsal synostosis 4 / 7739
15
(HPO:0003027) Mesomelia Very frequent [Orphanet] 58 / 7739
16
(HPO:0002857) Genu valgum Very frequent [Orphanet] 144 / 7739
17
(HPO:0000954) Single transverse palmar crease Occasional [Orphanet] 162 / 7739
18
(HPO:0002650) Scoliosis Occasional [Orphanet] 705 / 7739
19
(HPO:0100490) Camptodactyly of finger Very frequent [Orphanet] 212 / 7739
20
(HPO:0002970) Genu varum Occasional [Orphanet] 60 / 7739
21
(HPO:0010769) Pilonidal sinus Occasional [Orphanet] 35 / 7739
22
(HPO:0004209) Clinodactyly of the 5th finger Occasional [Orphanet] 288 / 7739
23
(HPO:0008368) Tarsal synostosis 21 / 7739
24
(HPO:0002992) Abnormality of the tibia Very frequent [Orphanet] 51 / 7739
25
(HPO:0001387) Joint stiffness Very frequent [Orphanet] 322 / 7739
26
(HPO:0002818) Abnormality of the radius Very frequent [Orphanet] 96 / 7739
27
(HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
28
(HPO:0008845) Mesomelic short stature 5 / 7739
29
(HPO:0001548) Overgrowth 27 / 7739
30
(HPO:0010781) Skin dimples 5 / 7739
31
(HPO:0200040) Epidermoid cyst Very frequent [Orphanet] 35 / 7739
32
(OMIM) Dimples (chin, buttocks) 4 / 7739
33
(OMIM) Normal intelligence 81 / 7739
34
(OMIM) Relative overgrowth of fibula 1 / 7739
35
(OMIM) Lower leg mesomelia 1 / 7739
36
(OMIM) Normal face 1 / 7739
37
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
38
(HPO:0012758) Neurodevelopmental delay Occasional [Orphanet] 949 / 7739
39
(OMIM) Rhomboidal shape of tibiae and fibulae 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Nievergelt syndrome is characterized by specific deformities of the radius, ulna, tibia, and fibula. Radioulnar synostosis and a typical rhomboid shape of the tibia and fibula are observed. Nievergelt (1944) reported an affected man who transmitted the syndrome ...