Paraplegia - intellectual deficit - hyperkeratosis

General Information (adopted from Orphanet):

Synonyms, Signs: Fitzsimmons-McLachlan-Gilbert syndrome
Number of Symptoms 27
OrphanetNr: 2824
OMIM Id: 309560
ICD-10: G82.1
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 4 cases [Orphanet]
Inheritance: X-linked recessive
[Orphanet]
Age of onset: No data available
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
X-linked syndromic intellectual deficit
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000218) High palate 356 / 7739
2
 (HPO:0012371) Hyperplasia of midface Very frequent [Orphanet] 10 / 7739
3
 (HPO:0000277) Abnormality of the mandible Frequent [Orphanet] 394 / 7739
4
 (HPO:0000340) Sloping forehead Frequent [Orphanet] 86 / 7739
5
 (HPO:0000348) High forehead Frequent [Orphanet] 157 / 7739
6
 (HPO:0005105) Abnormal nasal morphology Very frequent [Orphanet] 114 / 7739
7
 (HPO:0000639) Nystagmus Occasional [Orphanet] 555 / 7739
8
 (HPO:0000483) Astigmatism Occasional [Orphanet] 67 / 7739
9
 (HPO:0000508) Ptosis Occasional [Orphanet] 459 / 7739
10
 (HPO:0001258) Spastic paraplegia 97 / 7739
11
 (HPO:0001347) Hyperreflexia Frequent [Orphanet] 363 / 7739
12
 (HPO:0001249) Intellectual disability 1089 / 7739
13
 (HPO:0001348) Brisk reflexes 15 / 7739
14
 (HPO:0001276) Hypertonia Very frequent [Orphanet] 317 / 7739
15
 (HPO:0001337) Tremor 200 / 7739
16
 (HPO:0001256) Intellectual disability, mild 141 / 7739
17
 (HPO:0004279) Short palm Frequent [Orphanet] 323 / 7739
18
 (HPO:0001761) Pes cavus 225 / 7739
19
 (HPO:0000972) Palmoplantar hyperkeratosis 41 / 7739
20
 (HPO:0010579) Cone-shaped epiphysis Very frequent [Orphanet] 54 / 7739
21
 (HPO:0011302) Long palm Frequent [Orphanet] 70 / 7739
22
 (HPO:0001382) Joint hypermobility Frequent [Orphanet] 231 / 7739
23
 (HPO:0000962) Hyperkeratosis Very frequent [Orphanet] 216 / 7739
24
 (HPO:0001006) Hypotrichosis Frequent [Orphanet] 219 / 7739
25
 (HPO:0001805) Thick nail Very frequent [Orphanet] 96 / 7739
26
 (HPO:0001419) X-linked recessive inheritance 189 / 7739
27
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Fitzsimmons et al. (1983) reported mental retardation with spastic paraplegia and palmoplantar hyperkeratosis in 4 brothers whose ages ranged from 16 to 35 years at the time of report. Pes cavus was striking. The mother was of normal ...