Mesomelic dysplasia

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

A Mesomelic dysplasia is a group of rare congenital diseases . It is one of the skeletal dysplasias with the common main feature of a symmetrical shortening of the middle segments of the limbs and the resulting short stature .

The following diseases belong to this group:

• Mesomelic dysplasia type Kantaputra , autosomal dominant
• Mesomelic dysplasia of the Savarirayan type with a three-angled tibia and absent fibula
• Mesomelic dysplasia type Reinhardt-Pfeiffer (mesomelic short stature type Reinhardt-Pfeiffer)
• Mesomelic dysplasia Langer type (mesomelic short stature Langer type, Langer's syndrome), autosomal - recessive
• Mesomelic dysplasia type Nievergelt (mesomelic short stature type Nievergelt, Nievergelt syndrome ), autosomal dominant
• Mesomelic dysplasia of the upper extremity ( mesomelia synostosis syndrome (Fryns-Hofkens-Fabry syndrome))
• Mesomelic dysplasia Verloes-David-Pfeiffer type with acral synostoses (Verloes-David syndrome), autosomal dominant
• Mesomal short stature with cleft palate and camptodactyly ( Reardon-Hall-Slaney syndrome ), autosomal recessive
• Robinow syndrome (mesomelic dwarfism-small genitalia syndrome)

Individual evidence

1. ^ Mesomelic dysplasia. In: Orphanet (Rare Disease Database).
2. ↑ MESOMELIC DYSPLASIA, KANTAPUTRA TYPE.  In: Online Mendelian Inheritance in Man . (English)
3. ↑ CHROMOSOME 2q31.1 DUPLICATION SYNDROME.  In: Online Mendelian Inheritance in Man . (English)
4. ^ Mesomelic dysplasia. In: Orphanet (Rare Disease Database).
5. ↑ MESOMELIC DYSPLASIA, SAVARIRAYAN TYPE.  In: Online Mendelian Inheritance in Man . (English)
6. ^ Mesomelic dysplasia. In: Orphanet (Rare Disease Database).
7. ↑ ULNA AND FIBULA, HYPOPLASIA OF.  In: Online Mendelian Inheritance in Man . (English)
8. ↑ 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 .
9. ^ Mesomelic dysplasia. In: Orphanet (Rare Disease Database).
10. ↑ LONG MESOMELIC DYSPLASIA.  In: Online Mendelian Inheritance in Man . (English)
11. ^ Mesomelic dysplasia. In: Orphanet (Rare Disease Database).
12. ↑ NIEVERGELT SYNDROME.  In: Online Mendelian Inheritance in Man . (English)
13. ^ Mesomelic dysplasia. In: Orphanet (Rare Disease Database).
14. ↑ ULNAR HYPOPLASIA.  In: Online Mendelian Inheritance in Man . (English)
15. ^ Mesomelic dysplasia. In: Orphanet (Rare Disease Database).
16. ↑ MESOMELIA SYNOSTOSIS SYNDROME.  In: Online Mendelian Inheritance in Man . (English)
17. ^ Mesomelic dysplasia. In: Orphanet (Rare Disease Database).
18. ↑ MESOMELIC LIMB SHORTENING AND BOWING.  In: Online Mendelian Inheritance in Man . (English)
19. ^ Mesomelic dysplasia. In: Orphanet (Rare Disease Database).

This article is about a health issue. It is not used for self-diagnosis and does not replace a diagnosis by a doctor. Please note the information on health issues !