Endocrinology · Endocrinology / Pediatric endocrinology
Marshall–Smith syndrome
also: Marshall–Smith syndrome
Accelerated skeletal maturation with failure to thrive and airway problems.
- Specialty
- Endocrinology
- Subspecialty
- Endocrinology / Pediatric endocrinology
- Sex & age distribution
- Male: affected; Female: affected equally; Children: yes, infancy
- Gene(s) involved
- NFIX
- Alternative names & eponyms
- Marshall–Smith syndrome
Etiology & mechanism
NFIX variants.
Gene(s) involved (1)
Symptoms & signs (6)
In plain terms, someone with Marshall–Smith syndrome may experience the following — click any to explore related syndromes:
Same gene(s)
Other syndromes that involve one of this syndrome's genes.
Overlapping symptoms
Other syndromes that share symptoms with this one.
Drag nodes, scroll to zoom, click a node to open that syndrome.
Shares symptoms with
2 shared
Potocki–Lupski syndrome
failure to thrive, intellectual disability
2 shared
Smith–Lemli–Opitz syndrome
failure to thrive, intellectual disability
1 shared
Allan–Herndon–Dudley syndrome
intellectual disability
1 shared
Aniridia-Wilms tumor-genitourinary anomalies-retardation syndrome
intellectual disability
1 shared
Apert syndrome
intellectual disability
1 shared
Bamforth–Lazarus syndrome
choanal atresia
1 shared
Bare lymphocyte syndrome
failure to thrive
1 shared
Bartter syndrome
failure to thrive
1 shared
Benign hereditary chorea
respiratory problems
1 shared
Börjeson–Forssman–Lehmann syndrome
intellectual disability
Shares genes with
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