MCID: SPN368
MIFTS: 20

Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type

Categories: Genetic diseases, Neuronal diseases, Bone diseases, Fetal diseases, Rare diseases, Mental diseases

Aliases & Classifications for Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type

MalaCards integrated aliases for Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type:

Name: Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type 57 75 6
Spondyloepimetaphyseal Dysplasia, Progressive, with Short Stature, Facial Dysmorphism, Short Fourth Metatarsals, and Mental Retardation, with or Without Craniosynostosis 57 75
Semdfa 57 75
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome 59

Characteristics:

Orphanet epidemiological data:

59
progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
progressive skeletal dysplasia


HPO:

32
spondyloepimetaphyseal dysplasia, faden-alkuraya type:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type

UniProtKB/Swiss-Prot : 75 Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type: An autosomal recessive skeletal disorder characterized by spondyloepimetaphyseal dysplasia, short stature, facial dysmorphism, short fourth metatarsals, and intellectual disability.

MalaCards based summary : Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type, is also known as spondyloepimetaphyseal dysplasia, progressive, with short stature, facial dysmorphism, short fourth metatarsals, and mental retardation, with or without craniosynostosis. An important gene associated with Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type is RSPRY1 (Ring Finger And SPRY Domain Containing 1). Affiliated tissues include bone, and related phenotypes are malar flattening and hypertelorism

Description from OMIM: 616723

Related Diseases for Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type

Symptoms & Phenotypes for Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
hypertelorism
strabismus
epicanthal folds
ptosis, mild

Head And Neck Neck:
short neck

Head And Neck Head:
microcephaly
flattened occiput

Growth Height:
short stature

Skeletal Limbs:
small epiphyses
short femoral neck
slipped capital femoral epiphyses
short, slender long bones
cupping of metaphyses of tibia and fibula
more
Skeletal Hands:
short metacarpals

Head And Neck Face:
facial dysmorphism
malar hypoplasia

Skeletal Pelvis:
narrow pelvis
coxa deformity

Neurologic Behavioral Psychiatric Manifestations:
autism spectrum disorder (rare)

Head And Neck Ears:
low-set ears
small ears

Head And Neck Nose:
depressed nasal bridge
short nose

Skeletal Skull:
microcephaly
craniosynostosis
'copper-beaten' appearance of skull
premature closure of right coronal suture

Skeletal Spine:
platyspondyly
thoracolumbar scoliosis, mild
anterior wedging of lower thoracic vertebrae
posterior scalloping of lower thoracic vertebrae

Neurologic Central Nervous System:
delayed motor development
mental retardation
generalized hypotonia (in some patients)
asymmetry of cerebral hemispheres
asymmetry of lateral ventricles
more
Skeletal:
delayed bone age
generalized osteopenia

Head And Neck Mouth:
full lips
tented upper lip

Skeletal Feet:
overriding toes
marked shortening of fourth metatarsals

Muscle Soft Tissue:
reduced muscle strength (in some patients)


Clinical features from OMIM:

616723

Human phenotypes related to Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type:

32 (show all 31)
# Description HPO Frequency HPO Source Accession
1 malar flattening 32 HP:0000272
2 hypertelorism 32 HP:0000316
3 low-set ears 32 HP:0000369
4 short neck 32 HP:0000470
5 ptosis 32 HP:0000508
6 osteopenia 32 HP:0000938
7 intellectual disability 32 HP:0001249
8 delayed skeletal maturation 32 HP:0002750
9 depressed nasal bridge 32 HP:0005280
10 abnormal facial shape 32 HP:0001999
11 short nose 32 HP:0003196
12 microtia 32 HP:0008551
13 thick vermilion border 32 HP:0012471
14 microcephaly 32 HP:0000252
15 short stature 32 HP:0004322
16 strabismus 32 HP:0000486
17 platyspondyly 32 HP:0000926
18 epicanthus 32 HP:0000286
19 craniosynostosis 32 HP:0001363
20 tented upper lip vermilion 32 HP:0010804
21 short metacarpal 32 HP:0010049
22 motor delay 32 HP:0001270
23 narrow pelvis bone 32 HP:0003275
24 autistic behavior 32 occasional (7.5%) HP:0000729
25 generalized hypotonia 32 occasional (7.5%) HP:0001290
26 small epiphyses 32 HP:0010585
27 short femoral neck 32 HP:0100864
28 overlapping toe 32 HP:0001845
29 thoracolumbar scoliosis 32 HP:0002944
30 proximal femoral epiphysiolysis 32 HP:0006461
31 skull asymmetry 32 HP:0002678

Drugs & Therapeutics for Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type

Search Clinical Trials , NIH Clinical Center for Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type

Genetic Tests for Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type

Anatomical Context for Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type

MalaCards organs/tissues related to Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type:

41
Bone

Publications for Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type

Variations for Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type

UniProtKB/Swiss-Prot genetic disease variations for Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type:

75
# Symbol AA change Variation ID SNP ID
1 RSPRY1 p.Gly41Cys VAR_075873 rs864309652

ClinVar genetic disease variations for Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 RSPRY1 NM_133368.2(RSPRY1): c.1279dupA (p.Thr427Asnfs) duplication Pathogenic rs864309651 GRCh38 Chromosome 16, 57230716: 57230716
2 RSPRY1 NM_133368.2(RSPRY1): c.1279dupA (p.Thr427Asnfs) duplication Pathogenic rs864309651 GRCh37 Chromosome 16, 57264628: 57264628
3 RSPRY1 NM_133368.2(RSPRY1): c.121G> T (p.Gly41Cys) single nucleotide variant Pathogenic rs864309652 GRCh38 Chromosome 16, 57204779: 57204779
4 RSPRY1 NM_133368.2(RSPRY1): c.121G> T (p.Gly41Cys) single nucleotide variant Pathogenic rs864309652 GRCh37 Chromosome 16, 57238691: 57238691

Expression for Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type

Search GEO for disease gene expression data for Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type.

Pathways for Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type

GO Terms for Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type

Sources for Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type

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74 UMLS via Orphanet
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