Baller-Gerold syndrome

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Classification according to ICD-10
Q87.0 Congenital malformation syndromes with predominant involvement of the face
ICD-10 online (WHO version 2019)

The Baller-Gerold syndrome is a very rare genetic disease with the combination of premature closure of the cranial sutures ( craniosynostosis ) and absence of the spoke bone ( radial aplasia ).

The disease is named after F. Baller and M. Gerold, who first described it in 1950 .

distribution

It is an autosomal - recessive hereditary. The frequency is estimated to be less than 1 in 1,000,000.

root cause

It is based on a mutation of RECQL4 - gene on chromosome 8q24.3.

clinic

Diagnostic criteria are:

  • Premature (premature) suture synostosis (already existing at birth)
  • Radial ray defect with aplasia or hypoplasia of the radius and thumb, as well as the thumb-side carpal or metacarpal bones with hypoplasia of the finger extensor muscles
  • Short stature

In addition, skeletal malformations of the spine , shoulder or pelvic girdle, heart defects , anal atresia , misalignment of a kidney, facial dysmorphism such as hypertelorism , epicanthus , prominent nasal roots, auricular dysmorphism and mental retardation can occur. Poikiloderma can occur in the first months of life . Aplasia or hypoplasia of the patella is noticeable in childhood. The intelligence is usually normal. There is a predisposition to cancer, especially for the development of osteosarcomas.

Differential diagnosis

Clinically differentiated are the RAPADILINO syndrome and the Rothmund-Thomson syndrome , both of which are based on the same gene mutation, and the clinically similar Saethre-Chotzen syndrome . Other differential diagnoses include Roberts syndrome , Fanconi anemia , which is often associated with radial defects, and fetal valproate syndrome . An existing poikiloderma is considered to be pathognomonic.

therapy

A causal treatment is not known, the craniosynostosis should be surgically resolved in the first 6 months of life and, if necessary, the thumb can be reconstructed by transposing the index finger. In the long-term clinical course, due to the osteosarcoma risk, particular attention should be paid to bone pain, gait disorders and fractures. Sun exposure should be avoided because of the increased risk of skin cancer and increased sensitivity to light.

The detection of pathogenic RECQL4 mutations enables prenatal diagnosis in further pregnancies.

Individual evidence

  1. ^ F. Baller: Radius aplasia and inbreeding. In: Journal for Human Heredity and Constitutional Science. Volume 29, 1950, pp. 782-790.
  2. ^ M. Gerold: Fracture healing in a rare case of congenital anomaly of the upper limbs. In: Zentralblatt für Chirurgie. Volume 84, No. 21, 1959, pp. 831-834, ISSN  0044-409X . PMID 13669699
  3. ↑ 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
  4. ↑ a b c d e f Baller-Gerold syndrome. In: Orphanet (Rare Disease Database).
  5. ↑ L. Van Maldergem, HA Siitonen, N. Jalkh, E. Chouery, M. De Roy et al .: Revisiting the craniosynostosis-radial ray hypoplasia association: Baller-Gerold syndrome caused by mutations in the RECQL4 gene. In: Journal of medical genetics. Volume 43, Number 2, February 2006, pp. 148-152, ISSN  1468-6244 . doi: 10.1136 / jmg.2005.031781 . PMID 15964893 . PMC 2564634 (free full text)

Web links

Baller-Gerold syndrome.  In: Online Mendelian Inheritance in Man . (English)