MCID: BRC046
MIFTS: 17

Brachyphalangy, Polydactyly, and Tibial Aplasia/hypoplasia

Categories: Rare diseases

Aliases & Classifications for Brachyphalangy, Polydactyly, and Tibial Aplasia/hypoplasia

MalaCards integrated aliases for Brachyphalangy, Polydactyly, and Tibial Aplasia/hypoplasia:

Name: Brachyphalangy, Polydactyly, and Tibial Aplasia/hypoplasia 57 53
Brachyphalangy, Polydactyly and Absent Tibiae 53

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
brachyphalangy, polydactyly, and tibial aplasia/hypoplasia:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 609945
MedGen 42 C1864965

Summaries for Brachyphalangy, Polydactyly, and Tibial Aplasia/hypoplasia

MalaCards based summary : Brachyphalangy, Polydactyly, and Tibial Aplasia/hypoplasia, also known as brachyphalangy, polydactyly and absent tibiae, is related to polydactyly and brachydactyly. Affiliated tissues include skin, bone and kidney, and related phenotypes are hypertelorism and short neck

More information from OMIM: 609945

Related Diseases for Brachyphalangy, Polydactyly, and Tibial Aplasia/hypoplasia

Diseases related to Brachyphalangy, Polydactyly, and Tibial Aplasia/hypoplasia via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 polydactyly 10.6
2 brachydactyly 10.5
3 pseudovaginal perineoscrotal hypospadias 10.4

Symptoms & Phenotypes for Brachyphalangy, Polydactyly, and Tibial Aplasia/hypoplasia

Human phenotypes related to Brachyphalangy, Polydactyly, and Tibial Aplasia/hypoplasia:

32 (show top 50) (show all 71)
# Description HPO Frequency HPO Source Accession
1 hypertelorism 32 HP:0000316
2 short neck 32 HP:0000470
3 pectus excavatum 32 HP:0000767
4 high palate 32 HP:0000218
5 ptosis 32 HP:0000508
6 inguinal hernia 32 HP:0000023
7 hearing impairment 32 HP:0000365
8 global developmental delay 32 HP:0001263
9 delayed skeletal maturation 32 HP:0002750
10 wide nasal bridge 32 HP:0000431
11 short nose 32 HP:0003196
12 microcephaly 32 HP:0000252
13 broad thumb 32 HP:0011304
14 micrognathia 32 HP:0000347
15 epicanthus 32 HP:0000286
16 cryptorchidism 32 HP:0000028
17 metatarsus adductus 32 HP:0001840
18 horseshoe kidney 32 HP:0000085
19 atrial septal defect 32 HP:0001631
20 short toe 32 HP:0001831
21 talipes equinovarus 32 HP:0001762
22 hip dislocation 32 HP:0002827
23 microphthalmia 32 HP:0000568
24 hypoplastic iliac wing 32 HP:0002866
25 hypospadias 32 HP:0000047
26 micropenis 32 HP:0000054
27 overfolded helix 32 HP:0000396
28 bifid scrotum 32 HP:0000048
29 preauricular skin tag 32 HP:0000384
30 brachydactyly 32 HP:0001156
31 split hand 32 HP:0001171
32 blepharophimosis 32 HP:0000581
33 aplasia cutis congenita of scalp 32 HP:0007385
34 hypoplastic pubic rami 32 HP:0008830
35 craniosynostosis 32 HP:0001363
36 thin vermilion border 32 HP:0000233
37 toe syndactyly 32 HP:0001770
38 proximal placement of thumb 32 HP:0009623
39 hypoplasia of the ulna 32 HP:0003022
40 short metacarpal 32 HP:0010049
41 postaxial hand polydactyly 32 HP:0001162
42 torticollis 32 HP:0000473
43 hypoplasia of the radius 32 HP:0002984
44 short clavicles 32 HP:0000894
45 cupped ear 32 HP:0000378
46 knee flexion contracture 32 HP:0006380
47 hypoplastic ischia 32 HP:0003175
48 aplasia/hypoplasia of the humerus 32 HP:0006507
49 short phalanx of finger 32 HP:0009803
50 aplasia/hypoplasia of the nails 32 HP:0008386

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
hypertelorism
ptosis
microphthalmia
blepharophimosis
epicanthal folds

Chest Ribs Sternum Clavicles And Scapulae:
pectus excavatum
short clavicles
wavy ribs

Head And Neck Head:
microcephaly

Head And Neck Face:
micrognathia

Genitourinary Kidneys:
horseshoe kidney

Skeletal Pelvis:
hip dislocation
hypoplastic pubic rami
hypoplastic ischia
flared iliac wings
hypoplastic iliac wings
more
Skeletal Skull:
parietal foramina

Neurologic Central Nervous System:
developmental delay

Head And Neck Mouth:
high-arched palate
thin lips
carp-shaped mouth

Skeletal Limbs:
short fibula
short radius
short ulna
joint contractures (elbows and knees)
mesomelic lower limb shortening
more
Genitourinary External Genitalia Female:
absent labia majora
small clitoris

Skin Nails Hair Nails:
absent/hypoplastic nails

Head And Neck Neck:
short neck
torticollis
branchial pits

Genitourinary External Genitalia Male:
inguinal hernia
hypospadias
micropenis
bifid scrotum

Skeletal Hands:
broad thumb
brachydactyly
syndactyly
short metacarpals
short phalanges (middle phalanges)

Genitourinary Internal Genitalia Male:
cryptorchidism

Cardiovascular Heart:
atrial septal defect
total anomalous pulmonary venous connection

Skeletal Feet:
syndactyly
short phalanges
short metatarsals
clubfeet
preaxial polydactyly with central gap

Head And Neck Nose:
broad nasal bridge
small nose

Head And Neck Ears:
hearing loss
preauricular tags
cup-shaped ears
overfolded helices
cleft lobules

Skeletal:
delayed bone age

Skin Nails Hair Skin:
scalp defect
pterygium (elbows and knees)
aberrant skin dimples (elbows and knees)

Skeletal Spine:
prominent sacrum

Clinical features from OMIM:

609945

Drugs & Therapeutics for Brachyphalangy, Polydactyly, and Tibial Aplasia/hypoplasia

Search Clinical Trials , NIH Clinical Center for Brachyphalangy, Polydactyly, and Tibial Aplasia/hypoplasia

Genetic Tests for Brachyphalangy, Polydactyly, and Tibial Aplasia/hypoplasia

Anatomical Context for Brachyphalangy, Polydactyly, and Tibial Aplasia/hypoplasia

MalaCards organs/tissues related to Brachyphalangy, Polydactyly, and Tibial Aplasia/hypoplasia:

41
Skin, Bone, Kidney

Publications for Brachyphalangy, Polydactyly, and Tibial Aplasia/hypoplasia

Articles related to Brachyphalangy, Polydactyly, and Tibial Aplasia/hypoplasia:

# Title Authors PMID Year
1
Additional features in a new case of a girl presenting brachyphalangy, polydactyly and tibial aplasia/hypoplasia. 38 8
19533791 2009
2
A syndrome of brachyphalangy, polydactyly and absent tibiae. 38 8
9134290 1997
3
Tibial aplasia, lower extremity mirror image polydactyly, brachyphalangy, craniofacial dysmorphism and genital hypoplasia: further delineation and mutational analysis. 8
15057119 2004
4
Brachyphalangy, feet polydactyly, absent/hypoplastic tibiae: a further case and review of main diagnostic findings. 8
11310988 2001
5
Total anomalous pulmonary venous connection and a constellation of craniofacial, skeletal, and urogenital anomalies in a newborn and similar features in his 36-year-old father. 8
11311003 2001
6
Brachyphalangy, polydactyly and tibial aplasia/hypoplasia syndrome (OMIM 609945): case report and review of the literature. 38
20661588 2010

Variations for Brachyphalangy, Polydactyly, and Tibial Aplasia/hypoplasia

Expression for Brachyphalangy, Polydactyly, and Tibial Aplasia/hypoplasia

Search GEO for disease gene expression data for Brachyphalangy, Polydactyly, and Tibial Aplasia/hypoplasia.

Pathways for Brachyphalangy, Polydactyly, and Tibial Aplasia/hypoplasia

GO Terms for Brachyphalangy, Polydactyly, and Tibial Aplasia/hypoplasia

Sources for Brachyphalangy, Polydactyly, and Tibial Aplasia/hypoplasia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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