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

NGS +

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.

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