Chondrodysplasia punctata

Classification according to ICD-10
Q77.3	Chondrodysplasia Punctate Syndromes
ICD-10 online (WHO version 2019)

The term chondrodysplasia punctata is a group of congenital diseases that belong to the chondrodysplasias and lead to punctiform calcifications of cartilage tissue on the joints, larynx and windpipe (trachea).

Further symptoms are disproportionate short stature with shortened extremities, cornification disorder of the skin , cataracts and dysmorphism ( hypoplastic root of the nose). Split vertebrae are sometimes found .

Chondrodysplasia punctata Conradi-Hünermann, Rö Overview of the pelvis of a newborn with pin-shaped calcifications around the femoral metaphyses on both sides.

The group includes:

• Conradi-Hünermann syndrome : X-linked - dominantly inherited defect of the EBP gene (enzyme in cholesterol metabolism)
• Chondrodysplasia with brachytelephalangia: X-linked recessively inherited defect in the ARSE gene; a phenocopy of this disease is warfarin syndrome (coumarin embryopathy)
• Chondrodysplasia punctata type Sheffield autosomal dominant
• Chondrodysplasia punctata, tibial-metacarpal type, autosomal dominant
• Chondrodysplasia punctata type Toriello, inherited as an autosomal recessive trait
• Chondrodyplasia punctata, rhizomal type, autosomal recessive
• Chondrodysplasia punctata, non-rhizomelic type
• Chondrodysplasia punctata due to X-linked deletion

The calcifications are only detectable radiologically up to an age of 3 to 5 years. Later, growth retardation or disorders are in the foreground.

Cartilage calcifications from other causes and the CODAS syndrome are to be distinguished .

History

Originally, the terms Chondrodysplasia punctata and Conradi-Hünermann were used synonymously after the first descriptions by the Cologne pediatricians Erich Conradi in 1914 and Carl Hünermann in 1931. The distinction commonly used today is based on a distinction made by Jürgen Spranger in 1971.

literature

• JW Spranger: Bone Dysplasias. Urban & Fischer, 2002, ISBN 3-437-21430-6 .
• B. Leiber: The clinical syndromes. Syndromes, sequences and symptom complexes. Edited by G. Burg, J. Kunze, D. Pongratz, PG Scheurlen, A. Schinzel, J. Spranger. 7th edition. Urban & Schwarzenberg, 1990, ISBN 3-541-01727-9 .
• F. Hefti: Children's orthopedics in practice . Springer, 1998, ISBN 3-540-61480-X .

Individual evidence

1. ↑ Chondrodysplasia punctata, brachytelephalangeal type. In: Orphanet (Rare Disease Database).
2. ↑ L. Sheffield, D. Danks, V. Mayne, L. Hutchinson: Chondrodysplasia punctata - 23 cases of a mild and relatively common variety. In: Journal of Pediatrics. 1976, 89, pp. 916-923.
3. ↑ Chondrodysplasia punctata, Sheffield type. In: Orphanet (Rare Disease Database).
4. ^ Chondrodysplasia punctata, tibial-metacarpal type. In: Orphanet (Rare Disease Database).
5. ↑ Chondrodysplasia punctata type Toriello. In: Orphanet (Rare Disease Database).
6. ^ Chondrodyplasia punctata, rhizomelic type. In: Orphanet (Rare Disease Database).
7. ↑ Chondrodysplasia punctata, non-rhizomelic type. In: Orphanet (Rare Disease Database).
8. ↑ C. Curry, R. Magenis, M. Brown et al .: Inherited chondrodysplasia punctata due to a deletion of the terminal short arm of an X-chromosome. In: New England Journal of Medicine. 1984, 311, pp. 1010-1015.
9. ↑ JW Spranger, JM Opitz, U. Bidder: Heterogenity of chondrodysplasia punctata. In: Human Genetics. 1971 11, pp. 190-212.

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 !