Chondrodyplasia punctata, rhizomelic type
| Classification according to ICD-10 | |
|---|---|
| Q77.3 | Chondrodysplasia Punctate Syndromes |
| ICD-10 online (WHO version 2019) | |
The chondrodysplasia punctata, rhizomelic or Rhizomelic chondrodysplasia punctata , shortly RCDP is one already in infancy with a shortening of the upper arm and thigh ( rhizomelia manifesting) form of chondrodysplasia punctata .
The name goes back to a publication by RC Lightwood in 1931.
distribution
The frequency is given as 1–9 in 100,000, inheritance is autosomal - recessive .
root cause
The cause lies in disturbances in the metabolism of the peroxisomes . According to the localization, there is a subdivision into 3 types:
- Type I: Most common form with mutations in the PEX7 gene at location 6q21-q22.2, which affect the PTS2 receptor
- Type II: with mutations in the GNPAT gene at location 1q42, relating to dihydroxyacetone phosphate acyltransferase
- Type III: with mutations in the AGPS gene at location 2q31, changing the peroxisomal alkyl dihydroxyacetone phosphate synthase.
Clinical manifestations
Clinical criteria are:
- rhizomelic stature even at birth
- chubby, flat face, epicanthus
- Congenital cataract , symmetrical
- Ichthyosis . Sparse hair growth
- Microcephaly
- Joint mobility restricted
- Phytanic acid in plasma increased
- postnatal failure to thrive
- hardly treatable scoliosis, kyphosis
- mental disability
diagnosis
In the X-ray image shortening of the humerus and femur, dysplastic configuration of the metaphyseal , coronary vertebral columns As with the other forms of chondrodysplasia punctate calcification in the first year with subsequent Ossifikationsanomalien the epiphysis .
According to JW Spranger, specific criteria are :
- Symmetrical, severe shortening of the femur and / or humerus.
- Pronounced metaphyseal ossification disorders.
- Vertical, systemic ossification fissures of the vertebral bodies.
- Trapezoidal dysplasia of the iliac blades.
If the mutation in the family is known, a prenatal diagnosis is possible.
Differential diagnosis
The Zellweger syndrome is to be distinguished
therapy
A causal treatment is not known.
Prospect of healing
The prognosis is unfavorable, the patients die in the first decade of life, mostly due to breathing disorders.
literature
- D. Koischwitz, G. Anders: The Chondroplasia punctata. In: RöFo: Advances in the field of X-rays and nuclear medicine. Vol. 132, No. 6, June 1980, ISSN 1438-9029 , pp. 689-694, doi: 10.1055 / s-2008-1056644 , PMID 6450133 .
Individual evidence
- ↑ a b c d e f Chondrodyplasia punctata, rhizomelic type. In: Orphanet (Rare Disease Database).
- ↑ RC Lightwood: Congenital Deformities with Stippled Epiphyses and Congenital Cataract. In: Proceedings of the Royal Society of Medicine. Vol. 24, No. 5, March 1931, ISSN 0035-9157 , pp. 564-566, PMID 19988003 , PMC 2183392 (free full text).
- ↑ RCDP1. In: Online Mendelian Inheritance in Man . (English)
- ↑ RCDP2. In: Online Mendelian Inheritance in Man . (English)
- ↑ RCDP3. In: Online Mendelian Inheritance in Man . (English)
- ↑ 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 .
- ↑ F. Hefti: Pediatric Orthopedics in Practice. Springer 1998, ISBN 3-540-61480-X , p. 660
- ↑ JW Spranger, U. Bidder, C. Voelz: Chondrodysplasia punctata (Chondrodystrophia calcificans) II. The rhizomelic type. In: Advances in X-Ray and Nuclear Medicine. Vol. 114, No. 3, March 1971, ISSN 0015-8151 , pp. 327-335, PMID 4995567 .
