MCID: FRY007
MIFTS: 16

Fryns Macrocephaly

Categories: Fetal diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Fryns Macrocephaly

MalaCards integrated aliases for Fryns Macrocephaly:

Name: Fryns Macrocephaly 58 60 74
Macrocephaly with Spastic Paraplegia and Distinctive Craniofacial Appearance 58
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome 60

Characteristics:

Orphanet epidemiological data:

60
macrocephaly-spastic paraplegia-dysmorphism syndrome
Inheritance: Autosomal recessive; Age of onset: Childhood;

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
fryns macrocephaly:
Inheritance autosomal recessive inheritance


Classifications:



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

Description from OMIM: 600302

Related Diseases for Fryns Macrocephaly

Symptoms & Phenotypes for Fryns Macrocephaly

Human phenotypes related to Fryns Macrocephaly:

60 33 (show all 34)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macrocephaly 60 33 hallmark (90%) Very frequent (99-80%) HP:0000256
2 intellectual disability 60 33 hallmark (90%) Very frequent (99-80%) HP:0001249
3 seizures 60 33 hallmark (90%) Very frequent (99-80%) HP:0001250
4 spasticity 60 33 hallmark (90%) Very frequent (99-80%) HP:0001257
5 broad forehead 60 33 hallmark (90%) Very frequent (99-80%) HP:0000337
6 gait disturbance 60 33 frequent (33%) Frequent (79-30%) HP:0001288
7 hyperreflexia 60 33 frequent (33%) Frequent (79-30%) HP:0001347
8 coarse facial features 60 33 frequent (33%) Frequent (79-30%) HP:0000280
9 prominent supraorbital ridges 60 33 frequent (33%) Frequent (79-30%) HP:0000336
10 everted lower lip vermilion 60 33 frequent (33%) Frequent (79-30%) HP:0000232
11 wide mouth 60 33 frequent (33%) Frequent (79-30%) HP:0000154
12 short philtrum 60 33 frequent (33%) Frequent (79-30%) HP:0000322
13 deeply set eye 60 33 frequent (33%) Frequent (79-30%) HP:0000490
14 thin upper lip vermilion 60 33 frequent (33%) Frequent (79-30%) HP:0000219
15 high forehead 60 33 frequent (33%) Frequent (79-30%) HP:0000348
16 truncal obesity 60 33 frequent (33%) Frequent (79-30%) HP:0001956
17 scoliosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0002650
18 kyphosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0002808
19 mandibular prognathia 60 33 occasional (7.5%) Occasional (29-5%) HP:0000303
20 short nose 60 33 occasional (7.5%) Occasional (29-5%) HP:0003196
21 thick eyebrow 60 33 occasional (7.5%) Occasional (29-5%) HP:0000574
22 low posterior hairline 60 33 occasional (7.5%) Occasional (29-5%) HP:0002162
23 synophrys 60 33 occasional (7.5%) Occasional (29-5%) HP:0000664
24 thick hair 60 33 occasional (7.5%) Occasional (29-5%) HP:0100874
25 short neck 33 HP:0000470
26 intellectual disability, mild 33 HP:0001256
27 abnormality of the eye 33 HP:0000478
28 wide intermamillary distance 33 HP:0006610
29 spastic paraplegia 33 HP:0001258
30 cerebral atrophy 33 HP:0002059
31 knee flexion contracture 33 HP:0006380
32 short upper lip 33 HP:0000188
33 macrodontia of permanent maxillary central incisor 33 HP:0000675
34 postnatal macrocephaly 33 HP:0005490

Symptoms via clinical synopsis from OMIM:

58
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:

42
Eye

Publications for Fryns Macrocephaly

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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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