MCID: ULN017
MIFTS: 33

Ulna and Fibula, Absence of, with Severe Limb Deficiency

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

Aliases & Classifications for Ulna and Fibula, Absence of, with Severe Limb Deficiency

MalaCards integrated aliases for Ulna and Fibula, Absence of, with Severe Limb Deficiency:

Name: Ulna and Fibula, Absence of, with Severe Limb Deficiency 53
Al-Awadi/raas-Rothschild Syndrome 53 71 36
Schinzel Phocomelia Syndrome 53 49 71
Aarrs 53 49 71
Absence of Ulna and Fibula with Severe Limb Deficiency 49 71
Ulna and Fibula Absence of with Severe Limb Deficiency 49 28
Limb/pelvis-Hypoplasia/aplasia Syndrome 53 71
Phocomelia, Schinzel Type 49 55
Lphas 53 71
Ulna and Fibula, Absence of, with Sever Limb Deficiency 13
Al-Awadi/raas-Rothschild/schinzel Phocomelia Syndrome 49
Limb/pelvis-Hypoplasia/aplasia Syndrome; Lphas 53
Limb/pelvis/uterus-Hypoplasia/aplasia Syndrome 71
Al-Awadi/raas-Rothschild Syndrome; Aarrs 53
Limb Pelvis Hypoplasia Aplasia Syndrome 71
Aplasia/hypoplasia of Limbs and Pelvis 55
Congenital Absence of Ulna and Fibula 55
Al-Awadi-Raas-Rothschild Syndrome 49
Al Awadi-Raas-Rothschild Syndrome 55
Severe Limb Deficit 55

Characteristics:

Orphanet epidemiological data:

55
phocomelia, schinzel type
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal; Age of death: any age;

OMIM:

53
Inheritance:
autosomal recessive

Miscellaneous:
allelic to fibular aplasia or hypoplasia, femoral bowing, and poly-, syn-, and oligodactyly (fuhrmann syndrome, )


HPO:

31
ulna and fibula, absence of, with severe limb deficiency:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Ulna and Fibula, Absence of, with Severe Limb Deficiency

NIH Rare Diseases : 49 Al-Awadi-Raas-Rothschild (AARR) syndrome is a very rare genetic syndrome characterized by skeletal abnormalities. It is a type of skeletal dysplasia. Signs and symptoms of AARR syndrome are present from birth and may include having no fibula (lower bone of the leg) or ulna (bone of the arm), having an underdeveloped (hypoplastic) pelvis, and having differences in the sex structures (genitalia). Females with this syndrome may have an absent uterus, and males may have undescended testes (cryptorchidism). Al-Awadi-Raas-Rothschild syndrome is caused by mutations (changes) to the WNT7A gene and is inherited in an autosomal recessive manner. Diagnosis of the syndrome can be made when a doctor observes signs and symptoms consistent with the syndrome. The diagnosis can be confirmed by genetic testing. Treatment for Al-Awadi-Raas-Rothschild syndrome depends on the specific symptoms of each affected person, but may include surgical options. Al-Awadi-Raas-Rothschild syndrome is very similar to another syndrome known as Fuhrmann syndrome. The symptoms associated with Fuhrmann syndrome tend to be more mild than those associated with Al-Awadi-Raas-Rothschild syndrome. Last updated: 8/8/2017

MalaCards based summary : Ulna and Fibula, Absence of, with Severe Limb Deficiency, also known as al-awadi/raas-rothschild syndrome, is related to fibular aplasia or hypoplasia, femoral bowing and poly-, syn-, and oligodactyly and phocomelia, and has symptoms including short neck, short nose and cleft palate. An important gene associated with Ulna and Fibula, Absence of, with Severe Limb Deficiency is WNT7A (Wnt Family Member 7A). Affiliated tissues include bone, uterus and testes.

OMIM : 53 The Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome (AARRS) is a rare autosomal recessive disorder characterized by severe malformations of upper and lower limbs with severely hypoplastic pelvis and abnormal genitalia. The disorder is believed to represent a defect of dorsoventral patterning and outgrowth of limbs (summary by Kantaputra et al., 2010). (276820)

UniProtKB/Swiss-Prot : 71 Limb pelvis hypoplasia aplasia syndrome: A syndrome of severe deficiency of the extremities due to hypo- or aplasia of one or more long bones of one or more limbs. Pelvic manifestations include hip dislocation, hypoplastic iliac bone and aplastic pubic bones. Thoracic deformity, unusual facies and genitourinary anomalies can be present.

Related Diseases for Ulna and Fibula, Absence of, with Severe Limb Deficiency

Diseases related to Ulna and Fibula, Absence of, with Severe Limb Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 fibular aplasia or hypoplasia, femoral bowing and poly-, syn-, and oligodactyly 10.6
2 phocomelia 10.6
3 alzheimer disease 9.9
4 polycystic ovary syndrome 9.9

Symptoms & Phenotypes for Ulna and Fibula, Absence of, with Severe Limb Deficiency

Symptoms via clinical synopsis from OMIM:

53
Head And Neck Ears:
low-set ears
dysplastic ears
long ears

Head And Neck Mouth:
high palate
narrow palate

Genitourinary Internal Genitalia Male:
cryptorchidism

Genitourinary External Genitalia Male:
hypospadias
hypoplastic scrotum
anteriorly displaced genitalia

Head And Neck Face:
long face
asymmetric face

Chest Breasts:
hypoplastic nipples

Skeletal Feet:
oligodactyly
aplastic/hypoplastic phalanges
aplastic/hypoplastic metatarsals
aplastic/hypoplastic tarsals
hypoplastic feet

Skeletal Limbs:
humeroradial synostosis
elbow flexion contractures
shortened forearm
short, bowed radii
aplastic ulnae
more
Head And Neck Eyes:
epicanthal folds

Skin Nails Hair Skin:
pilonidal sinus

Neurologic Central Nervous System:
occipital meningocele

Skeletal Skull:
poorly ossified calvarium

Head And Neck Neck:
short neck
broad neck

Chest RibsSternum Clavicles And Scapulae:
pectus carinatum
broad ribs
broad clavicles
prominent sternum
pseudoarthrosis of clavicle

Skeletal Pelvis:
hip dislocation
hypoplastic iliac bone
aplastic pubic bones

Skin Nails Hair Nails:
anonychia

Skeletal Spine:
hemivertebrae

Skeletal Hands:
oligodactyly
ectrodactyly
aplastic/hypoplastic phalanges
aplastic carpal bone
mobile wrist
more
Chest External Features:
barrel-shaped chest

Head And Neck Nose:
broad nasal bridge

Growth Height:
short stature, disproportionate

Genitourinary Internal Genitalia Female:
absent uterus

Genitourinary External Genitalia Female:
anteriorly displaced genitalia


Clinical features from OMIM:

276820

Human phenotypes related to Ulna and Fibula, Absence of, with Severe Limb Deficiency:

55 31 (show top 50) (show all 74)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short neck 55 31 frequent (33%) Frequent (79-30%) HP:0000470
2 short nose 55 31 occasional (7.5%) Occasional (29-5%) HP:0003196
3 cleft palate 55 31 occasional (7.5%) Occasional (29-5%) HP:0000175
4 micrognathia 55 31 frequent (33%) Frequent (79-30%) HP:0000347
5 micromelia 55 31 hallmark (90%) Very frequent (99-80%) HP:0002983
6 cryptorchidism 55 31 very rare (1%) Occasional (29-5%) HP:0000028
7 hydrops fetalis 55 31 occasional (7.5%) Occasional (29-5%) HP:0001789
8 intrauterine growth retardation 55 31 frequent (33%) Frequent (79-30%) HP:0001511
9 high, narrow palate 55 31 occasional (7.5%) Occasional (29-5%) HP:0002705
10 protruding ear 55 31 occasional (7.5%) Occasional (29-5%) HP:0000411
11 meningocele 55 31 occasional (7.5%) Occasional (29-5%) HP:0002435
12 anal atresia 55 31 occasional (7.5%) Occasional (29-5%) HP:0002023
13 hypoplasia of penis 55 31 occasional (7.5%) Occasional (29-5%) HP:0008736
14 tracheoesophageal fistula 55 31 occasional (7.5%) Occasional (29-5%) HP:0002575
15 nail dysplasia 55 31 hallmark (90%) Very frequent (99-80%) HP:0002164
16 aplasia/hypoplasia involving the pelvis 55 31 hallmark (90%) Very frequent (99-80%) HP:0009103
17 talipes 55 31 occasional (7.5%) Occasional (29-5%) HP:0001883
18 ectrodactyly 55 31 hallmark (90%) Very frequent (99-80%) HP:0100257
19 hypoplasia of the radius 55 31 frequent (33%) Frequent (79-30%) HP:0002984
20 aplasia of the uterus 55 31 occasional (7.5%) Frequent (79-30%) HP:0000151
21 abnormality of tibia morphology 55 31 hallmark (90%) Very frequent (99-80%) HP:0002992
22 disproportionate short stature 55 31 frequent (33%) Very frequent (99-80%) HP:0003498
23 fibular aplasia 55 31 hallmark (90%) Very frequent (99-80%) HP:0002990
24 aplasia/hypoplasia of the sacrum 55 31 hallmark (90%) Very frequent (99-80%) HP:0008517
25 radial bowing 55 31 frequent (33%) Frequent (79-30%) HP:0002986
26 foot oligodactyly 55 31 hallmark (90%) Very frequent (99-80%) HP:0001849
27 humeroradial synostosis 55 31 frequent (33%) Occasional (29-5%) HP:0003041
28 low-set ears 31 HP:0000369
29 high palate 31 HP:0000218
30 narrow palate 31 HP:0000189
31 bowing of the long bones 55 Very frequent (99-80%)
32 wide nasal bridge 31 HP:0000431
33 pectus carinatum 31 HP:0000768
34 broad ribs 31 very rare (1%) HP:0000885
35 epicanthus 31 HP:0000286
36 short foot 31 hallmark (90%) HP:0001773
37 broad neck 31 very rare (1%) HP:0000475
38 hip dislocation 31 occasional (7.5%) HP:0002827
39 hypospadias 31 HP:0000047
40 anonychia 31 HP:0001798
41 long face 31 very rare (1%) HP:0000276
42 split hand 31 frequent (33%) HP:0001171
43 hemivertebrae 31 HP:0002937
44 scrotal hypoplasia 31 very rare (1%) HP:0000046
45 hypoplastic nipples 31 HP:0002557
46 skull defect 55 Occasional (29-5%)
47 decreased calvarial ossification 31 HP:0005474
48 phocomelia 31 frequent (33%) HP:0009829
49 oligodactyly (hands) 55 Very frequent (99-80%)
50 aplasia/hypoplasia involving the metacarpal bones 31 frequent (33%) HP:0005914

Drugs & Therapeutics for Ulna and Fibula, Absence of, with Severe Limb Deficiency

Search Clinical Trials , NIH Clinical Center for Ulna and Fibula, Absence of, with Severe Limb Deficiency

Genetic Tests for Ulna and Fibula, Absence of, with Severe Limb Deficiency

Genetic tests related to Ulna and Fibula, Absence of, with Severe Limb Deficiency:

# Genetic test Affiliating Genes
1 Ulna and Fibula Absence of with Severe Limb Deficiency 28 WNT7A

Anatomical Context for Ulna and Fibula, Absence of, with Severe Limb Deficiency

MalaCards organs/tissues related to Ulna and Fibula, Absence of, with Severe Limb Deficiency:

38
Bone, Uterus, Testes

Publications for Ulna and Fibula, Absence of, with Severe Limb Deficiency

Articles related to Ulna and Fibula, Absence of, with Severe Limb Deficiency:

# Title Authors Year
1
A novel missense mutation, p.(R102W) in WNT7A causes Al-Awadi Raas- Rothschild syndrome in a fetus. ( 27638328 )
2016
2
A case of severe proximal focal femoral deficiency with overlapping phenotypes of Al-Awadi-Raas-Rothschild syndrome and Fuhrmann syndrome. ( 24839142 )
2014
3
A report of two cases of Al-Awadi Raas-Rothschild syndrome (AARRS) supporting that "apparent" Phocomelia differentiates AARRS from Schinzel Phocomelia syndrome (SPS). ( 23727605 )
2013
4
The WNT7A G204S mutation is associated with both Al-Awadi-Raas Rothschild syndrome and Fuhrmann syndrome phenotypes. ( 23266637 )
2013
5
Al-Awadi/Raas-Rothschild syndrome: two new cases and review. ( 17431918 )
2007

Variations for Ulna and Fibula, Absence of, with Severe Limb Deficiency

UniProtKB/Swiss-Prot genetic disease variations for Ulna and Fibula, Absence of, with Severe Limb Deficiency:

71
# Symbol AA change Variation ID SNP ID
1 WNT7A p.Arg292Cys VAR_030674 rs104893835
2 WNT7A p.Arg222Trp VAR_064480 rs397514643
3 WNT7A p.Glu72Lys VAR_065765 rs397514666

ClinVar genetic disease variations for Ulna and Fibula, Absence of, with Severe Limb Deficiency:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 WNT7A NM_004625.3(WNT7A): c.874C> T (p.Arg292Cys) single nucleotide variant Pathogenic rs104893835 GRCh37 Chromosome 3, 13860617: 13860617
2 WNT7A NM_004625.3(WNT7A): c.610G> A (p.Gly204Ser) single nucleotide variant Pathogenic/Likely pathogenic rs387907231 GRCh37 Chromosome 3, 13860881: 13860881
3 WNT7A NM_004625.3(WNT7A): c.664C> T (p.Arg222Trp) single nucleotide variant Pathogenic rs397514643 GRCh37 Chromosome 3, 13860827: 13860827
4 WNT7A NM_004625.3(WNT7A): c.214G> A (p.Glu72Lys) single nucleotide variant Pathogenic rs397514666 GRCh37 Chromosome 3, 13916528: 13916528
5 WNT7A NM_004625.3(WNT7A): c.304C> T (p.Arg102Trp) single nucleotide variant Pathogenic rs879255548 GRCh37 Chromosome 3, 13896295: 13896295

Expression for Ulna and Fibula, Absence of, with Severe Limb Deficiency

Search GEO for disease gene expression data for Ulna and Fibula, Absence of, with Severe Limb Deficiency.

Pathways for Ulna and Fibula, Absence of, with Severe Limb Deficiency

GO Terms for Ulna and Fibula, Absence of, with Severe Limb Deficiency

Sources for Ulna and Fibula, Absence of, with Severe Limb Deficiency

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67 TGDB
68 Tocris
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70 UMLS via Orphanet
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