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Mesomelic dwarfism, Nievergelt type

MedGen UID:
Concept ID:
Disease or Syndrome
Synonyms: Nievergelt syndrome; Nievergelt's syndrome; Radioulnar synostosis and a typical rhomboid shape of the tibia and fibula
SNOMED CT: Nievergelt syndrome (33979003); Mesomelic dysplasia - Nievergelt type (33979003); Nievergelt's syndrome (33979003); Nievergelt-Erb syndrome (33979003)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
Concept ID:
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Monarch Initiative: MONDO:0008098
OMIM®: 163400
Orphanet: ORPHA2633


A rare primary bone dysplasia characterized by severe mesomelic shortness particularly of the lower limbs with distinctive triangular or rhomboid-shaped tibiae and fibulae, accompanied by bony protuberances and skin dimples. Additional manifestations include radioulnar synostosis, dislocation of the radial head, abnormalities of the hands (such as oligosyndactyly or fusiform-shaped fingers) and feet (pes equinovarus, synostoses of tarsals/metatarsals and phalanges), and dysmorphic facial features. [from ORDO]

Clinical features

From HPO
Talipes equinovarus
MedGen UID:
Concept ID:
Congenital Abnormality
Clubfoot is a congenital limb deformity defined as fixation of the foot in cavus, adductus, varus, and equinus (i.e., inclined inwards, axially rotated outwards, and pointing downwards) with concomitant soft tissue abnormalities (Cardy et al., 2007). Clubfoot may occur in isolation or as part of a syndrome (e.g., diastrophic dysplasia, 222600). Clubfoot has been reported with deficiency of long bones and mirror-image polydactyly (Gurnett et al., 2008; Klopocki et al., 2012).
MedGen UID:
Concept ID:
Congenital Abnormality
Shortening of the middle parts of the limbs (forearm and lower leg) in relation to the upper and terminal segments.
Genu valgum
MedGen UID:
Concept ID:
Anatomical Abnormality
The legs angle inward, such that the knees are close together and the ankles far apart.
MedGen UID:
Concept ID:
Excessive postnatal growth which may comprise increased weight, increased length, and/or increased head circumference.
Mesomelic short stature
MedGen UID:
Concept ID:
A type of disproportionate short stature characterized by disproportionate shortening of the medial parts of the extremities (forearm or lower leg).
Radial head subluxation
MedGen UID:
Concept ID:
Injury or Poisoning
Partial dislocation of the head of the radius.
Radioulnar synostosis
MedGen UID:
Concept ID:
Congenital Abnormality
An abnormal osseous union (fusion) between the radius and the ulna.
Tarsal synostosis
MedGen UID:
Concept ID:
Congenital Abnormality
Synostosis (bony fusion) involving one or more bones of the tarsus (calcaneus, talus, cuboid, navicular, cuneiiform bones).
Metatarsal synostosis
MedGen UID:
Concept ID:
Skin dimple
MedGen UID:
Concept ID:
Skin dimples are cutaneous indentations that are the result of tethering of the skin to underlying structures (bone) causing an indentation.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVMesomelic dwarfism, Nievergelt type
Follow this link to review classifications for Mesomelic dwarfism, Nievergelt type in Orphanet.

Recent clinical studies


Merchant R, Bhatt N, Merchant M
J Foot Ankle Surg 2015 Nov-Dec;54(6):1162-5. Epub 2015 Mar 20 doi: 10.1053/j.jfas.2014.12.021. PMID: 25799911
Urban M, Krüger S
Am J Med Genet 1998 Mar 5;76(2):145-9. doi: 10.1002/(sici)1096-8628(19980305)76:2<145::aid-ajmg7>3.0.co;2-s. PMID: 9511977
Petrella R, Ludman MD, Rabinowitz JG, Gilbert F, Hirschhorn K
Am J Med Genet 1990 Sep;37(1):10-4. doi: 10.1002/ajmg.1320370104. PMID: 2240023
Burnstein MI, De Smet AA, Breed AL, Thomas JR, Hafez GR
Skeletal Radiol 1989;18(2):121-5. doi: 10.1007/BF00350660. PMID: 2717950
Young LW, Wood BP
Birth Defects Orig Artic Ser 1974;10(5):81-6. PMID: 4469999


Tüysüz B, Zeybek C, Zorer G, Sipahi O, Ungür S
Am J Med Genet 2002 May 1;109(3):206-10. doi: 10.1002/ajmg.10283. PMID: 11977180

Clinical prediction guides

Burnstein MI, De Smet AA, Breed AL, Thomas JR, Hafez GR
Skeletal Radiol 1989;18(2):121-5. doi: 10.1007/BF00350660. PMID: 2717950

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