Mesomelic dysplasia Langer type

Classification according to ICD-10
Q78.8	Other specified osteochondrodysplasias
ICD-10 online (WHO version 2019)

The mesomelic dysplasia type Langer is a very rare congenital skeletal dysplasia and belongs to the mesomelic dysplasias . The main hallmarks are the hypoplasia of the ulna , fibula and mandible .

Synonyms are mesomelic short stature type Langer , Langer syndrome or homozygous dyschondrosteosis ( English homozygous dyschondrosteosis ).

The name refers to the eponymous author of a publication from 1967 by the American radiologist Leonard O. Langer (* 1928).

distribution

The frequency is given as less than 1 in 1,000,000, and about 50 patients have been reported to date. Inheritance is autosomal - recessive .

root cause

The disease are mutations in SHOX - gene at the location Xp22.33 or at shoxy gene at the location Yp11.32 basis.

SHOX / PAR1-associated diseases include the severe form of mesomelic dysplasia of the Langer type, the milder form of Léri Weill dyschondrosteosis , the isolated Madelung deformity , and finally idiopathic short stature. The prevalence of SHOX / PAR1 mutations is estimated at 1: 1,000.

Clinical manifestations

Diagnostic criteria are:

Short-limbed stature , adult height around 130 cm
Particular shortening of the forearms and lower legs, not always with Madelung deformity
Micro genius

There is also a deformity of the humeral head, the femoral neck and the carpal bones . Associated malformations are rare.

Diagnosis

In the X-ray image shortening of the long bones, in particular hypoplasia of the ulna distal proximally with radial bowing laterally and hypoplasia of the fibula. Detection in the womb is possible non-invasively using genetics , but also using fine ultrasound .

Differential diagnosis

A distinction from the femur-fibula-ulna syndrome and mesomelic dysplasia type Reinhardt-Pfeiffer is essential even prenatally ; after birth, other forms of mesomelic dysplasia must also be differentiated.

treatment

A causal therapy is not known.

forecast

Life expectancy is normal.

Individual evidence

↑ ^a ^b Bernfried Leiber (founder): The clinical syndromes. Syndromes, sequences and symptom complexes . Ed .: G. Burg, J. Kunze, D. Pongratz, PG Scheurlen, A. Schinzel, J. Spranger. 7., completely reworked. Edition. tape 2 : symptoms . Urban & Schwarzenberg, Munich et al. 1990, ISBN 3-541-01727-9 .
^ LO Langer: Mesomelic dwarfism of the hypoplastic ulna, fibula, mandible type. In: Radiology. Vol. 89, No. 4, October 1967, ISSN 0033-8419 , pp. 654-660, doi: 10.1148 / 89.4.654 , PMID 6059604 .
↑ ^a ^b ^c ^d Langer type mesomelic dysplasia. In: Orphanet (Rare Disease Database).
↑ LONG MESOMELIC DYSPLASIA. In: Online Mendelian Inheritance in Man . (English)
^ MI Evans, IE Zador, F. Qureshi, H. Budev, MH Quigg, HL Nadler: Ultrasonographic prenatal diagnosis and fetal pathology of Langer mesomelic dwarfism. In: American journal of medical genetics. Vol. 31, No. 4, December 1988, ISSN 0148-7299 , pp. 915-920, doi: 10.1002 / ajmg.1320310426 , PMID 3071136 .

[Leiber-1] Bernfried Leiber (founder): The clinical syndromes. Syndromes, sequences and symptom complexes . Ed .: G. Burg, J. Kunze, D. Pongratz, PG Scheurlen, A. Schinzel, J. Spranger. 7., completely reworked. Edition. tape 2 : symptoms . Urban & Schwarzenberg, Munich et al. 1990, ISBN 3-541-01727-9 .

[2] LO Langer: Mesomelic dwarfism of the hypoplastic ulna, fibula, mandible type. In: Radiology. Vol. 89, No. 4, October 1967, ISSN 0033-8419 , pp. 654-660, doi: 10.1148 / 89.4.654 , PMID 6059604 .

[Orpha-3] Langer type mesomelic dysplasia. In: Orphanet (Rare Disease Database).

[4] LONG MESOMELIC DYSPLASIA. In: Online Mendelian Inheritance in Man . (English)

[5] MI Evans, IE Zador, F. Qureshi, H. Budev, MH Quigg, HL Nadler: Ultrasonographic prenatal diagnosis and fetal pathology of Langer mesomelic dwarfism. In: American journal of medical genetics. Vol. 31, No. 4, December 1988, ISSN 0148-7299 , pp. 915-920, doi: 10.1002 / ajmg.1320310426 , PMID 3071136 .