Macrocephaly - spastic paraplegia - dysmorphism

General Information (adopted from Orphanet):

Synonyms, Signs: MACROCEPHALY WITH SPASTIC PARAPLEGIA AND DISTINCTIVE CRANIOFACIAL APPEARANCE
Fryns macrocephaly
Number of Symptoms 41
OrphanetNr: 2429
OMIM Id: 600302
ICD-10: Q87.0
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Childhood
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
Pure or complex autosomal recessive spastic paraplegia
 -Rare genetic disease
 -Rare neurologic disease
Rare genetic intellectual deficit with developmental anomaly
 -Rare genetic disease
Rare intellectual deficit with developmental anomaly
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000337) Broad forehead Very frequent [Orphanet] 116 / 7739
2
 (HPO:0000280) Coarse facial features Frequent [Orphanet] 189 / 7739
3
 (HPO:0000256) Macrocephaly Very frequent [Orphanet] 298 / 7739
4
 (HPO:0002162) Low posterior hairline Occasional [Orphanet] 88 / 7739
5
 (HPO:0000233) Thin vermilion border Frequent [Orphanet] 124 / 7739
6
 (HPO:0005490) Postnatal macrocephaly 3 / 7739
7
 (HPO:0000232) Everted lower lip vermilion Frequent [Orphanet] 90 / 7739
8
 (HPO:0000188) Short upper lip 8 / 7739
9
 (HPO:0003196) Short nose Occasional [Orphanet] 264 / 7739
10
 (HPO:0000574) Thick eyebrow Occasional [Orphanet] 96 / 7739
11
 (HPO:0000470) Short neck 345 / 7739
12
 (HPO:0000675) Macrodontia of permanent maxillary central incisor 7 / 7739
13
 (HPO:0000336) Prominent supraorbital ridges Frequent [Orphanet] 45 / 7739
14
 (HPO:0000490) Deeply set eye Frequent [Orphanet] 131 / 7739
15
 (HPO:0000219) Thin upper lip vermilion 112 / 7739
16
 (HPO:0000322) Short philtrum Frequent [Orphanet] 130 / 7739
17
 (HPO:0000154) Wide mouth Frequent [Orphanet] 137 / 7739
18
 (HPO:0000348) High forehead Frequent [Orphanet] 157 / 7739
19
 (HPO:0000664) Synophrys Occasional [Orphanet] 112 / 7739
20
 (HPO:0000349) Widow's peak Occasional [Orphanet] 26 / 7739
21
 (HPO:0000303) Mandibular prognathia Occasional [Orphanet] 179 / 7739
22
 (HPO:0000478) Abnormality of the eye 126 / 7739
23
 (HPO:0007020) Progressive spastic paraplegia 5 / 7739
24
 (HPO:0001256) Intellectual disability, mild 141 / 7739
25
 (HPO:0001258) Spastic paraplegia 97 / 7739
26
 (HPO:0001288) Gait disturbance Frequent [Orphanet] 318 / 7739
27
 (HPO:0001347) Hyperreflexia Frequent [Orphanet] 363 / 7739
28
 (HPO:0001276) Hypertonia Very frequent [Orphanet] 317 / 7739
29
 (HPO:0001250) Seizures Very frequent [Orphanet] 1245 / 7739
30
 (HPO:0006610) Wide intermamillary distance 46 / 7739
31
 (HPO:0006380) Knee flexion contracture 56 / 7739
32
 (HPO:0002808) Kyphosis Occasional [Orphanet] 289 / 7739
33
 (HPO:0002650) Scoliosis Occasional [Orphanet] 705 / 7739
34
 (HPO:0001956) Truncal obesity Frequent [Orphanet] 39 / 7739
35
 (HPO:0002208) Coarse hair Occasional [Orphanet] 58 / 7739
36
 (HPO:0002059) Cerebral atrophy 171 / 7739
37
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
38
 (OMIM) Macrocephaly, postnatal onset 1 / 7739
39
 (OMIM) Mental retardation, mild to profound 3 / 7739
40
 (OMIM) Broad thorax 1 / 7739
41
 (OMIM) Large, broad forehead 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Fryns et al. (1994) described a brother and sister, aged 8 and 15 years, respectively, with a subtype of complicated spastic paraplegia distinguished by the presence of macrocephaly and distinctive craniofacial appearance (broad and high forehead, deeply set ...