Metaphyseal dysplasia

Classification according to ICD-10
Q78.5	Metaphyseal dysplasia
ICD-10 online (WHO version 2019)

The Metaphyseal dysplasia refers to a group of skeletal dysplasias with mainly the metaphyses concerned changes.

The term is sometimes used synonymously (in the English-speaking world) for Pyle syndrome (Pyle disease), autosomal - recessive inheritance. (METAPHYSEAL DYSPLASIA)

The metaphyseal dysplasias as a group of diseases include:

• Achondroplasia
• Hypochondroplasia
• Metaphyseal chondrodysplasia ( metaphyseal chondrodysplasia type Jansen , metaphyseal chondrodysplasia type Schmid and cartilage-hair hypoplasia )
• Asphyxating thoracic dysplasia
• Ellis van Creveld syndrome
• Cartilage-hair hypoplasia

Further:

• Metaphyseal dysplasia Braun-Tinschert type
• Metaphyseal dysplasia - maxillary hypoplasia - brachydactyly , autosomal dominant , mutations in the RUNX2 gene at locus 6p21.1
• Metaphyseal dysostosis - mental retardation - conductive hearing loss
• Metaphyseal dysplasia - anetoderma - optic atrophy

outdated designations:

• Metaphyseal dysplasia without hypotrichosis (cartilage hair hypoplasia-like syndrome; cartilage-hair hypoplasia-like skeletal dysplasia without hypotrichosis), autosomal recessive, mutations in the RMRP gene at 9p13.3 Postponed to cartilage-hair hypoplasia , metaphyseal dysplasia recessive; McKusick chondrodysplasia; METAPHYSEAL CHONDRODYSPLASIA, MCKUSICK TYPE)
• Metaphyseal chondrodysplasia type Spahr
• Metaphyseal chondrodysplasia Kaitila type

In the context of syndromes , metaphyseal dysplasia can occur as a main feature, as in the IMAGE syndrome .

Individual evidence

1. ↑ Dysplasia, metaphyseal. In: Orphanet (Rare Disease Database).
2. ^ Pyle disease. In: Orphanet (Rare Disease Database).
3. ↑ PYLE DISEASE.  In: Online Mendelian Inheritance in Man . (English)
4. ↑ W. Schuster, D. Färber (editor): Children's radiology. Imaging diagnostics. Springer 1996, p. 321ff., ISBN 3-540-60224-0
5. ↑ Dysplasia, metaphyseal, Braun-Tinschert type. In: Orphanet (Rare Disease Database).
6. ↑ METAPHYSEAL DYSPLASIA, BRAUN-TINSCHERT TYPE.  In: Online Mendelian Inheritance in Man . (English)
7. ↑ Dysplasia, metaphyseal - maxillary hypoplasia - brachydactyly. In: Orphanet (Rare Disease Database).
8. ↑ MDMHB.  In: Online Mendelian Inheritance in Man . (English)
9. ↑ Metaphyseal dysostosis - mental retardation - conductive hearing loss. In: Orphanet (Rare Disease Database).
10. ↑ METAPHYSEAL DYSOSTOSIS, MENTAL RETARDATION, AND CONDUCTIVE DEAFNESS.  In: Online Mendelian Inheritance in Man . (English)
11. ↑ METAPHYSEAL DYSPLASIA, ANETODERMA, AND OPTIC ATROPHY.  In: Online Mendelian Inheritance in Man . (English)
12. ↑ Dysplasia, metaphyseal, without hypotrichosis. In: Orphanet (Rare Disease Database).
13. ↑ METAPHYSEAL DYSPLASIA WITHOUT HYPOTRICHOSIS.  In: Online Mendelian Inheritance in Man . (English)
14. ↑ Cartilage-hair hypoplasia. In: Orphanet (Rare Disease Database).
15. ↑ Chondrodysplasia, metaphyseal, Spahr type. In: Orphanet (Rare Disease Database).
16. ↑ METAPHYSEAL DYSPLASIA, SPAHR TYPE.  In: Online Mendelian Inheritance in Man . (English)
17. ↑ Chondrodysplasia, metaphyseal, Kaitila type. 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 !