Tricho-rhino-phalangeal dysplasia

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Classification according to ICD-10
Q87.8 Other specified congenital malformation syndromes, not elsewhere classified
ICD-10 online (WHO version 2019)

The Tricho-rhino-phalangeal dysplasia is a rare congenital malformation syndrome with deletion in chromosome 8 with a combination of facial dysmorphism and cone-shaped .

The inheritance is autosomal dominant .

Common clinical criteria are:

  • Cone epiphyses on the middle phalanges
  • Pear-shaped deformity of the nose, high philtrum
  • Thin sparse hair, possibly premature alopecia

There are currently three types:

Type I.

In addition, there are short stature , pronounced shortening of all phalanges and metacarpal and metatarsal bones. Often there are Perthes disease -like changes in the femoral head. The cause is mutations in the TPRS1 gene in chromosome region 8q24.12. 8q23.3.

The first description was given by the German dermatologist G. Klingmüller in 1956.

Type III

This is a particularly pronounced variant of type I with very pronounced short stature and very severe brachydactyly.

Type II

In addition, there is a reduced intelligence and exostoses occurring in the first years of life, especially at the ends of the long bones, with pain, functional restrictions and deformities.

Synonyms are:

  • Tricho-Rhino-Phalangeal Syndrome (TRPS)
  • Alè-Calò syndrome according to the first description of the clinical findings from 1961, the Italian radiologist G. Alè and the Italian pediatrician S. Calò.
  • Giedion-Langer syndrome according to the Swiss pediatric radiologist Andres Giedion .
  • Langer-Giedion syndrome
  • Multiple cartilaginous exostoses - peripheral dysostosis syndrome,
  • CHROMOSOME 8q24.1 DELETION SYNDROME

The cause is based on microdeletions in the chromosome region 8q23.3-q24.13 with the loss of at least 2 genes: TRPS1 and EXT1.

therapy

Treatment is symptomatic for all types and may also include plastic surgery.

Individual evidence

  1. ↑ a b 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
  2. ↑ a b Tricho-rhino-phalangeal dysplasia. In: Orphanet (Rare Disease Database).
  3. ^ Tricho-rhino-phalangeal dysplasia.  In: Online Mendelian Inheritance in Man . (English)
  4. ↑ G. Klingmüller: About peculiar constitutional anomalies in 2 sisters and their relationship to more recent developmental pathological findings. In: The dermatologist; Journal of Dermatology, Venereology, and Allied Fields. Volume 7, Number 3, March 1956, pp. 105-113, ISSN  0017-8470 . PMID 13318598 .
  5. ↑ a b c Tricho-rhino-phalangeal dysplasia. In: Orphanet (Rare Disease Database).
  6. ↑ G. Alè, p Calò: Su di un caso di disostosi Periferica associata con esostosi osteogeniche multiple ed ipossomia disuniforme disarmonica. In: Annali di radiologia diagnostica. Volume 34, November 1961, pp. 376-385, ISSN  0003-4673 . PMID 13860224 .
  7. ^ A. Giedion: The peripheral dysostosis (PD) - a collective term. In: Advances in X-Ray and Nuclear Medicine. 1969, Volume 110, Number 4, April 1969, pp. 507-524, ISSN  0015-8151 . PMID 5307918
  8. ^ Tricho-rhino-phalangeal dysplasia.  In: Online Mendelian Inheritance in Man . (English)