Malan syndrome
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(sometimes known as Sotos type 2 syndrome)
Prevalence < 1/1.106. Sporadic. Mutation (microdeletion or variant) of the NFIX (nuclear factor I X) gene (19p13.3): other mutations of this gene can lead to Marshall-Smith syndrome (see this term). Overgrowth syndrome close to Sotos syndrome (see this term)
Association of:
- moderate excessive postnatal growth (up to 2 SD for age)
- macrocephaly (75 %), (up to 2.3 SD for age)
- craniofacial dysmorphism: long or triangular face, prominent forehead, high implantation of hair, downslanting palpebral fissures, short nose with upturned tip, long philtrum, prominent chin, everted lower lip, retrognathia, low-set ears, preauricular appendices
- hypotonia
- advanced bone age
- developmental retardation and intellectual deficit.
Sometimes:
- behavioral disorder (anxiety, extreme sensitivity to noise) with or without autistic traits,
- eye abnormalities: strabismus (65 %), nystagmus, paleness/hypoplasia of the optic disc (25 %),
- gastrointestinal problems: vomiting, chronic diarrhea, constipation,
- scoliosis, pectus excavatum (40 %) or carinatum
- long fingers (hands/feet)
- body hemihypertrophy
- vascular abnormalities
- slightly enlarged cerebral ventricles.
- progressive dilation of the ascending aorta
In case of an associated deletion of the CACNA1A gene (19p13.2) (contiguous gene disorder), cerebellar ataxia, epilepsy and migraines can be present.
Anesthetic implications:
intellectual deficit, very anxious patient, risk of difficult intubation
References :
- Klaassens M, Morrogh D, Rossen EM, Jaffer F et al.
Malan syndrome: Sotos-like overgrowth with de novo NFIX sequence variants and deletions in six new patients and review of the literature.
Eur J Med Genet 2015; 23: 610-5.
- Priolo M, Schanze D, Tatton-Brown K, Mulder PA et al.
Further delineation of Malan syndrome.
Human Mutations 2018; 39: 126-37.
- Partyka LM.
Anesthetic considerations in an infant with Malan syndrome: a case report.
A&A Practice 2022; 16e01600
Updated: July 2022