Renpenning Syndrome
| Classification according to ICD-10 | |
|---|---|
| Q87.5 | Other congenital malformation syndromes with other skeletal changes |
| ICD-10 online (WHO version 2019) | |
The Renpenning syndrome is a very rare congenital disease from the group of starting in childhood syndromic X-linked mental retardation (S-XLMR) with microcephaly , leanness and moderate short stature .
Synonyms are: intellectual disability, X-linked, type Renpenning; X-linked intellectual disability with PQBP1 gene mutation; English Mental Retardation, X-Linked, Renpenning Type; Sutherland-Haan X-Linked Mental Retardation Syndrome; SHS; Golabi-Ito-Hall Syndrome
The name refers to the first author of the first description from 1962 by the Canadian ophthalmologist or pediatrician Hans Jacob Renpenning (1929-2006) and colleagues, the other names refer to the Australians Garnette R. Sutherland and Eric A. Haan as well as the US -Americans Mahin Golabi , Melani Ito and Bryan D. Hall , p. under #subforms.
distribution
The frequency is given as less than 1 in 1,000,000, inheritance is X-linked - recessive .
root cause
The disease is based on mutations in the PQBP1 gene at gene location Xp11.23, which codes for the polyglutamine tract-binding protein 1 .
Lower forms
The following variants are assigned to the Renpenning Syndrome:
- Golabi-Ito-Hall Syndrome
- Cerebro-palato-cardiac syndrome Hamel type with the most pronounced symptoms
- Porteous Syndrome
- Sutherland-Haan Syndrome
- MRX55 (Mental Retardation, X-Linked 55; MRX55)
Clinical manifestations
Clinical criteria are:
- intellectual disability, early retarded development
- Dependence on auxiliary persons
- Short stature
- Microcephalus at birth
- Face inconspicuous
- Facial abnormalities such as a long triangular face, sloping eyelids, partially hairless eyebrows , overhanging nasal bridge , short philtrum and protruding ears
- Leanness, failure to thrive
- Muscular atrophy along the spine with the head hanging, image of a scapula alata
In addition to ankylosing on thumb and atrophy of the intrinsic hand muscles.
diagnosis
In addition to the clinical findings, the diagnosis is based on the fact that no fragile X can be detected genetically . In the diagnostic imaging by MRI , no reduction showing gyri despite the pronounced microcephaly. The diagnosis is confirmed by analyzing the PQBP1 gene.
Differential diagnosis
The following are to be distinguished:
- Fragile X syndrome (but not microcephaly)
- other causes of microcephaly maternal phenylketonuria
- Autosomal recessive primary microcephaly
- Smith-Lemli-Opitz syndrome
literature
- C. Lenski, F. Abidi, A. Meindl, A. Gibson, M. Platzer, R. Frank Kooy, HA Lubs, RE Stevenson, J. Ramser, CE Schwartz: Novel truncating mutations in the polyglutamine tract binding protein 1 gene ( PQBP1) cause Renpenning syndrome and X-linked mental retardation in another family with microcephaly. In: American Journal of Human Genetics . Vol. 74, No. 4, April 2004, pp. 777-780, doi: 10.1086 / 383205 , PMID 15024694 , PMC 1181956 (free full text).
- RE Stevenson, JF Arena, E. Ouzts, A. Gibson, MH Shokeir, C. Vnencak-Jones, HA Lubs, M. May, CE Schwartz: Renpenning syndrome maps to Xp11. In: American Journal of Human Genetics . Vol. 62, No. 5, May 1998, pp. 1092-1101, doi: 10.1086 / 301835 , PMID 9545405 , PMC 1377092 (free full text).
Individual evidence
- ↑ a b c d e f g Renpenning syndrome. In: Orphanet (Rare Disease Database).
- ↑ a b c d 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 .
- ↑ Who named it
- ↑ Deaths . In: CMAJ. 2006 Jul 18; 175 (2): 213. doi : 10.1503 / cmaj.060732 . PMC 1490005 (free full text).
- ^ HJ Renpenning, JW Gerrard, WA Zaleski, T. Tabata: Familial sex-linked mental retardation. In: Canadian Medical Association Journal Vol. 87, 1962, 954-956, 1962. PMID 13981686
- ↑ Renpenning Syndrome. In: Online Mendelian Inheritance in Man . (English)
- Jump up ↑ intellectual disability , X-linked, Golabi-Ito-Hall type. In: Orphanet (Rare Disease Database).
- ↑ M. Golabi, M. Ito, BD Hall: A new X-linked multiple congenital anomalies / mental retardation syndrome. In: American journal of medical genetics. Vol. 17, No. 1, January 1984, pp. 367-374, doi: 10.1002 / ajmg.1320170130 , PMID 6711604 .
- ↑ Hamel cerebro-palato-cardiac syndrome. In: Orphanet (Rare Disease Database).
- ↑ MEM Porteous, H. Johnson, J. Burn et al .: A new mental retardation syndrome mapping to the pericentromeric region of the X-chromosome. In: American Journal of Human Genetics Vol. 51, A106, 1992
- ↑ GR Sutherland, AK Gedeon, EA Haan, P. Woodroffe, JC Mulley: Linkage studies with the gene for an X-linked syndrome of mental retardation, microcephaly and spastic diplegia (MRX2) In: American journal of medical genetics. Volume 30, Numbers 1-2, 1988 May-Jun, pp. 493-508, PMID 3177467 .
- ↑ SC Deqaqi, M. N'Guessan, J. Forner, A. Sbiti, C. Beldjord, J. Chelly, A. Sefiani, V. Des Portes: A gene for non-specific X-linked mental retardation (MRX55) is located in Xp11. In: Annales de génétique. Vol. 41, No. 1, 1998, pp. 11-16, PMID 9599645 .
- ↑ Microcephaly, primary, autosomal recessive. In: Orphanet (Rare Disease Database).
