MCID: ULN017
MIFTS: 31

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 54
Absence of Ulna and Fibula with Severe Limb Deficiency 50 24 71
Schinzel Phocomelia Syndrome 50 24 71
Ulna and Fibula Absence of with Severe Limb Deficiency 50 29
Limb/pelvis-Hypoplasia/aplasia Syndrome 24 71
Al-Awadi/raas-Rothschild Syndrome 24 71
Phocomelia, Schinzel Type 50 56
Aarrs 50 71
Ulna and Fibula, Absence of, with Sever Limb Deficiency 13
Al-Awadi/raas-Rothschild/schinzel Phocomelia Syndrome 50
Limb/pelvis/uterus-Hypoplasia/aplasia Syndrome 71
Limb Pelvis Hypoplasia Aplasia Syndrome 71
Aplasia/hypoplasia of Limbs and Pelvis 56
Congenital Absence of Ulna and Fibula 56
Al-Awadi-Raas-Rothschild Syndrome 50
Al Awadi-Raas-Rothschild Syndrome 56
Severe Limb Deficit 56
Lphas 71

Characteristics:

Orphanet epidemiological data:

56
phocomelia, schinzel type
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal; Age of death: any age;

OMIM:

54
Inheritance:
autosomal recessive

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


HPO:

32
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 : 50 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 absence of ulna and fibula with severe limb deficiency, is related to fuhrmann syndrome and phocomelia, and has symptoms including micrognathia, radial bowing and intrauterine growth retardation. 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.

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.

OMIM : 54
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)

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:

id Related Disease Score Top Affiliating Genes
1 fuhrmann syndrome 10.5
2 phocomelia 10.4
3 polycystic ovary syndrome 9.9

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

Symptoms via clinical synopsis from OMIM:

54

Head And Neck- Face:
long face
asymmetric face

Head And Neck- Eyes:
epicanthal folds

Genitourinary- External Genitalia Male:
hypospadias
hypoplastic scrotum
anteriorly displaced genitalia

Head And Neck- Mouth:
narrow palate
high palate

Genitourinary- Internal Genitalia Male:
cryptorchidism

Head And Neck- Neck:
short neck
broad neck

Chest- Breasts:
hypoplastic nipples

Genitourinary- External Genitalia Female:
anteriorly displaced genitalia

Skeletal- Skull:
poorly ossified calvarium

Skeletal- Hands:
aplastic carpal bone
mobile wrist
aplastic/hypoplastic metacarpals
aplastic/hypoplastic phalanges
ectrodactyly
more
Skin Nails & Hair- Skin:
pilonidal sinus

Neurologic- Central Nervous System:
occipital meningocele

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

Growth- Height:
short stature, disproportionate

Skeletal- Pelvis:
hip dislocation
hypoplastic iliac bone
aplastic pubic bones

Chest- Ribs Sternum Clavicles And Scapulae:
pectus carinatum
prominent sternum
pseudoarthrosis of clavicle
broad clavicles
broad ribs

Skeletal- Spine:
hemivertebrae

Head And Neck- Nose:
broad nasal bridge

Chest- External Features:
barrel-shaped chest

Genitourinary- Internal Genitalia Female:
absent uterus

Skeletal- Limbs:
elbow flexion contractures
shortened forearm
short, bowed radii
aplastic ulnae
humeroradial synostosis
more
Skeletal- Feet:
aplastic/hypoplastic phalanges
oligodactyly
aplastic/hypoplastic tarsals
aplastic/hypoplastic metatarsals
hypoplastic feet

Skin Nails & Hair- Nails:
anonychia


Clinical features from OMIM:

276820

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

56 32 (show top 50) (show all 76)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 micrognathia 56 32 frequent (33%) Frequent (79-30%) HP:0000347
2 radial bowing 56 32 frequent (33%) Frequent (79-30%) HP:0002986
3 intrauterine growth retardation 56 32 frequent (33%) Frequent (79-30%) HP:0001511
4 cleft palate 56 32 occasional (7.5%) Occasional (29-5%) HP:0000175
5 short nose 56 32 occasional (7.5%) Occasional (29-5%) HP:0003196
6 cryptorchidism 56 32 very rare (1%) Occasional (29-5%) HP:0000028
7 short neck 56 32 frequent (33%) Frequent (79-30%) HP:0000470
8 micromelia 56 32 hallmark (90%) Very frequent (99-80%) HP:0002983
9 tracheoesophageal fistula 56 32 occasional (7.5%) Occasional (29-5%) HP:0002575
10 hydrops fetalis 56 32 occasional (7.5%) Occasional (29-5%) HP:0001789
11 humeroradial synostosis 56 32 frequent (33%) Occasional (29-5%) HP:0003041
12 ectrodactyly 56 32 hallmark (90%) Very frequent (99-80%) HP:0100257
13 talipes 56 32 occasional (7.5%) Occasional (29-5%) HP:0001883
14 nail dysplasia 56 32 hallmark (90%) Very frequent (99-80%) HP:0002164
15 fibular aplasia 56 32 hallmark (90%) Very frequent (99-80%) HP:0002990
16 anal atresia 56 32 occasional (7.5%) Occasional (29-5%) HP:0002023
17 high, narrow palate 56 32 occasional (7.5%) Occasional (29-5%) HP:0002705
18 meningocele 56 32 occasional (7.5%) Occasional (29-5%) HP:0002435
19 hypoplasia of penis 56 32 occasional (7.5%) Occasional (29-5%) HP:0008736
20 protruding ear 56 32 occasional (7.5%) Occasional (29-5%) HP:0000411
21 hypoplasia of the radius 56 32 frequent (33%) Frequent (79-30%) HP:0002984
22 aplasia of the uterus 56 32 occasional (7.5%) Frequent (79-30%) HP:0000151
23 disproportionate short stature 56 32 frequent (33%) Very frequent (99-80%) HP:0003498
24 aplasia/hypoplasia of the sacrum 56 32 hallmark (90%) Very frequent (99-80%) HP:0008517
25 aplasia/hypoplasia involving the pelvis 56 32 hallmark (90%) Very frequent (99-80%) HP:0009103
26 long face 32 very rare (1%) HP:0000276
27 low-set ears 32 HP:0000369
28 femoral bowing 32 frequent (33%) HP:0002980
29 hypospadias 32 HP:0000047
30 hip dislocation 32 occasional (7.5%) HP:0002827
31 narrow palate 32 HP:0000189
32 pectus carinatum 32 HP:0000768
33 hemivertebrae 32 HP:0002937
34 wide nasal bridge 32 HP:0000431
35 elbow flexion contracture 32 frequent (33%) HP:0002987
36 high palate 32 HP:0000218
37 scrotal hypoplasia 32 very rare (1%) HP:0000046
38 hypoplastic nipples 32 HP:0002557
39 epicanthus 32 HP:0000286
40 broad neck 32 very rare (1%) HP:0000475
41 barrel-shaped chest 32 very rare (1%) HP:0001552
42 prominent sternum 32 very rare (1%) HP:0000884
43 broad clavicles 32 very rare (1%) HP:0000916
44 broad ribs 32 very rare (1%) HP:0000885
45 anteriorly displaced genitalia 32 very rare (1%) HP:0003252
46 aplastic pubic bones 32 HP:0008817
47 pilonidal sinus 32 HP:0010769
48 anonychia 32 HP:0001798
49 occipital meningocele 32 occasional (7.5%) HP:0002436
50 elbow ankylosis 32 frequent (33%) HP:0003070

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:

id Genetic test Affiliating Genes
1 Ulna and Fibula Absence of with Severe Limb Deficiency 29
2 Absence of Ulna and Fibula with Severe Limb Deficiency 24 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:

39
Bone, Uterus, Testes

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

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
id 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
id 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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16 ExPASy
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30 HGMD
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34 ICD10 via Orphanet
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59 PubMed
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65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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