MCID: FRY007
MIFTS: 18

Fryns Macrocephaly

Categories: Fetal diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Fryns Macrocephaly

MalaCards integrated aliases for Fryns Macrocephaly:

Name: Fryns Macrocephaly 56 58 71
Macrocephaly with Spastic Paraplegia and Distinctive Craniofacial Appearance 56
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome 58

Characteristics:

Orphanet epidemiological data:

58
macrocephaly-spastic paraplegia-dysmorphism syndrome
Inheritance: Autosomal recessive; Age of onset: Childhood;

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
fryns macrocephaly:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


Summaries for Fryns Macrocephaly

MalaCards based summary : Fryns Macrocephaly, is also known as macrocephaly with spastic paraplegia and distinctive craniofacial appearance, and has symptoms including seizures Affiliated tissues include eye, and related phenotypes are macrocephaly and intellectual disability

More information from OMIM: 600302

Related Diseases for Fryns Macrocephaly

Symptoms & Phenotypes for Fryns Macrocephaly

Human phenotypes related to Fryns Macrocephaly:

58 31 (show all 34)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macrocephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000256
2 intellectual disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001249
3 seizures 58 31 hallmark (90%) Very frequent (99-80%) HP:0001250
4 spasticity 58 31 hallmark (90%) Very frequent (99-80%) HP:0001257
5 broad forehead 58 31 hallmark (90%) Very frequent (99-80%) HP:0000337
6 gait disturbance 58 31 frequent (33%) Frequent (79-30%) HP:0001288
7 hyperreflexia 58 31 frequent (33%) Frequent (79-30%) HP:0001347
8 coarse facial features 58 31 frequent (33%) Frequent (79-30%) HP:0000280
9 prominent supraorbital ridges 58 31 frequent (33%) Frequent (79-30%) HP:0000336
10 short philtrum 58 31 frequent (33%) Frequent (79-30%) HP:0000322
11 everted lower lip vermilion 58 31 frequent (33%) Frequent (79-30%) HP:0000232
12 wide mouth 58 31 frequent (33%) Frequent (79-30%) HP:0000154
13 deeply set eye 58 31 frequent (33%) Frequent (79-30%) HP:0000490
14 thin upper lip vermilion 58 31 frequent (33%) Frequent (79-30%) HP:0000219
15 high forehead 58 31 frequent (33%) Frequent (79-30%) HP:0000348
16 truncal obesity 58 31 frequent (33%) Frequent (79-30%) HP:0001956
17 scoliosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002650
18 kyphosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002808
19 mandibular prognathia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000303
20 short nose 58 31 occasional (7.5%) Occasional (29-5%) HP:0003196
21 thick eyebrow 58 31 occasional (7.5%) Occasional (29-5%) HP:0000574
22 low posterior hairline 58 31 occasional (7.5%) Occasional (29-5%) HP:0002162
23 synophrys 58 31 occasional (7.5%) Occasional (29-5%) HP:0000664
24 thick hair 58 31 occasional (7.5%) Occasional (29-5%) HP:0100874
25 short neck 31 HP:0000470
26 intellectual disability, mild 31 HP:0001256
27 abnormality of the eye 31 HP:0000478
28 wide intermamillary distance 31 HP:0006610
29 spastic paraplegia 31 HP:0001258
30 cerebral atrophy 31 HP:0002059
31 knee flexion contracture 31 HP:0006380
32 short upper lip 31 HP:0000188
33 macrodontia of permanent maxillary central incisor 31 HP:0000675
34 postnatal macrocephaly 31 HP:0005490

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Neck:
short neck

Head And Neck Face:
short philtrum
large, broad forehead

Head And Neck Mouth:
thin upper lip
large mouth

Head And Neck Teeth:
prominent upper incisors

Chest External Features:
broad thorax

Neurologic Central Nervous System:
seizures
cerebral atrophy
mental retardation, mild to profound
spastic paraplegia, progressive

Growth Other:
truncal obesity

Chest Breasts:
widely spaced nipples

Head And Neck Head:
macrocephaly, postnatal onset

Skeletal Limbs:
contractures of the knees

Clinical features from OMIM:

600302

UMLS symptoms related to Fryns Macrocephaly:


seizures

Drugs & Therapeutics for Fryns Macrocephaly

Search Clinical Trials , NIH Clinical Center for Fryns Macrocephaly

Genetic Tests for Fryns Macrocephaly

Anatomical Context for Fryns Macrocephaly

MalaCards organs/tissues related to Fryns Macrocephaly:

40
Eye

Publications for Fryns Macrocephaly

Articles related to Fryns Macrocephaly:

# Title Authors PMID Year
1
Macrocephaly, distinct craniofacial appearance, and spastic paraplegia: a new case and expansion of the phenotype. 61 56
12923872 2003
2
Spasticity, mental retardation, macrocephaly and distinct craniofacial appearance: confirmation of a new subtype of complicated spastic paraplegia? 56
9777344 1998
3
Macrocephaly, distinct craniofacial appearance and spastic paraplegia: an autosomal recessive subtype of complicated spastic paraplegia. 56
8076406 1994

Variations for Fryns Macrocephaly

Expression for Fryns Macrocephaly

Search GEO for disease gene expression data for Fryns Macrocephaly.

Pathways for Fryns Macrocephaly

GO Terms for Fryns Macrocephaly

Sources for Fryns Macrocephaly

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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