IllnessMenke-Hennekam-Syndrom 1; Rubinstein-Taybi-Syndrom 1

Summary

Short information

Curated single gene sequence analysis according to the clinical suspicion Menke-Hennekam ayndrome 1 or Rubinstein Taybi syndrome 1, respectively

MP5656

Number of genes

1 Accredited laboratory test

Examined sequence length

7,4 kb (Core-/Core-canditate-Genes)
- (Extended panel: incl. additional genes)

Analysis Duration

on request

Material

EDTA-anticoagulated blood (3-5 ml)

Diagnostic indications

NGS +

Gene panel

Selected genes

Name	Exon Length (bp)	OMIM-G	Referenz-Seq.	Heredity
CREBBP	7329	600140	NM_004380.3	AD

Informations about the disease

Clinical Comment

Menke-Hennekam syndrome-1 (no ORPHANET#): congenital disorder with variable impairment of intellectual development, facial dysmorphisms, feeding difficulties, autistic behavior, recurrent upper airway infections, hearing impairment, short stature + microcephaly. CREBBP mutations in exons 30/31 only! Although mutations in the same gene cause Rubinstein-Taybi syndrome-1, patients with MKHK1 do not resemble the striking phenotype of RSTS1 (ORPHANET:783).

Rubinstein-Taybi syndrome-1 (RSTS1): mental retardation, postnatal growth deficiency, microcephaly, broad thumbs + halluces, dysmorphic facial features. Classic face with highly arched eyebrows, long eyelashes, downslanting palpebral fissures, broad nasal bridge, beaked nose with the nasal septum, highly arched palate, mild micrognathia, characteristic grimacing or abnormal smile.

Synonyms

Alias: Broad thumb-hallux syndrome, RSTS, RTS (CREBBP)
Menke-Hennekam syndrome 1 (CREBBP)
Rubinstein-Taybi syndrome 1 (CREBBP)

Heredity, heredity patterns etc.

OMIM-Ps

ICD10 Code

Bioinformatics and clinical interpretation

No text defined