MASA syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: GAREIS-MASON SYNDROME
CLASPED THUMB AND MENTAL RETARDATION
ADDUCTED THUMB WITH MENTAL RETARDATION
THUMB, CONGENITAL CLASPED, WITH MENTAL RETARDATION
SPASTIC PARAPLEGIA 1, X-LINKED
CRASH SYNDROME
MENTAL RETARDATION, APHASIA, SHUFFLING GAIT, AND ADDUCTED THUMBS
SPG1
Intellectual defici-aphasia-shuffling gait-adducted thumbs syndrome
Number of Symptoms 26
OrphanetNr: 2466
OMIM Id: 303350
ICD-10: G11.4
UMLs: C0795953
MeSH: C536029
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: X-linked recessive
X-linked
[Orphanet]
Age of onset: Neonatal
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: L1 syndrome
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare neurologic disease
X-linked complex spastic paraplegia
 -Rare genetic disease
 -Rare neurologic disease

Comment:

L1 syndrome is a mild to severe congenital X-linked developmental disorder characterized by hydrocephalus of varying degrees of severity, intellectual deficit, spasticity of the legs, and adducted thumbs. The syndrome represents a spectrum of disorders including: X-linked hydrocephalus with stenosis of the aqueduct of Sylvius (HSAS), MASA syndrome, X-linked complicated hereditary spastic paraplegia type 1, and X-linked complicated corpus callosum agenesis (Orphanet, Dec 2016).

Symptom Information: Sort by abundance 

1
 (HPO:0000252) Microcephaly 832 / 7739
2
 (HPO:0000256) Macrocephaly 298 / 7739
3
 (HPO:0000486) Strabismus 576 / 7739
4
 (HPO:0001288) Gait disturbance Very frequent [Orphanet] 318 / 7739
5
 (HPO:0002061) Lower limb spasticity 56 / 7739
6
 (HPO:0004374) Hemiplegia/hemiparesis Very frequent [Orphanet] 158 / 7739
7
 (HPO:0002362) Shuffling gait 13 / 7739
8
 (HPO:0002167) Neurological speech impairment Very frequent [Orphanet] 308 / 7739
9
 (HPO:0001258) Spastic paraplegia 97 / 7739
10
 (HPO:0002381) Aphasia 27 / 7739
11
 (HPO:0001249) Intellectual disability 1089 / 7739
12
 (HPO:0001347) Hyperreflexia Very frequent [Orphanet] 363 / 7739
13
 (HPO:0003307) Hyperlordosis 122 / 7739
14
 (HPO:0001181) Adducted thumb 31 / 7739
15
 (HPO:0001172) Abnormality of the thumb Very frequent [Orphanet] 103 / 7739
16
 (HPO:0001762) Talipes equinovarus 309 / 7739
17
 (HPO:0001761) Pes cavus 225 / 7739
18
 (HPO:0002808) Kyphosis 289 / 7739
19
 (HPO:0004209) Clinodactyly of the 5th finger Frequent [Orphanet] 288 / 7739
20
 (HPO:0100490) Camptodactyly of finger Frequent [Orphanet] 212 / 7739
21
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
22
 (HPO:0001274) Agenesis of corpus callosum 142 / 7739
23
 (HPO:0000238) Hydrocephalus 278 / 7739
24
 (HPO:0007370) Aplasia/Hypoplasia of the corpus callosum Occasional [Orphanet] 180 / 7739
25
 (HPO:0002119) Ventriculomegaly Occasional [Orphanet] 253 / 7739
26
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739

Associated genes:

L1CAM;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) The hereditary spastic paraplegias (SPG) are a group of clinically and genetically diverse disorders characterized by progressive, usually severe, lower extremity spasticity; see reviews of Fink et al. (1996) and Fink (1997). Some forms of SPG are considered ...
Clinical Description OMIM Bianchine and Lewis (1974) described a Mexican-American kindred in which 6 males in 4 sibships of 3 generations plus a female in one of them had mental retardation, aphasia, shuffling gait, and adducted thumbs (MASA). In addition to ...
Molecular genetics OMIM The demonstration by Rosenthal et al. (1992) of mutation in the L1CAM gene in X-linked hydrocephalus suggested that a mutation in the same gene may be responsible for the MASA syndrome. That this is indeed the case was ...