MCID: BRC046
MIFTS: 19

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 56 52
Brachyphalangy, Polydactyly and Absent Tibiae 52

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant


HPO:

31
brachyphalangy, polydactyly, and tibial aplasia/hypoplasia:
Inheritance autosomal dominant inheritance


Classifications:



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 hearing impairment and global developmental delay

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

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

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

31 (show top 50) (show all 71)
# Description HPO Frequency HPO Source Accession
1 hearing impairment 31 HP:0000365
2 global developmental delay 31 HP:0001263
3 delayed skeletal maturation 31 HP:0002750
4 inguinal hernia 31 HP:0000023
5 hypertelorism 31 HP:0000316
6 short neck 31 HP:0000470
7 wide nasal bridge 31 HP:0000431
8 short nose 31 HP:0003196
9 microcephaly 31 HP:0000252
10 broad thumb 31 HP:0011304
11 metatarsus adductus 31 HP:0001840
12 cryptorchidism 31 HP:0000028
13 high palate 31 HP:0000218
14 micrognathia 31 HP:0000347
15 horseshoe kidney 31 HP:0000085
16 epicanthus 31 HP:0000286
17 ptosis 31 HP:0000508
18 pectus excavatum 31 HP:0000767
19 atrial septal defect 31 HP:0001631
20 short toe 31 HP:0001831
21 talipes equinovarus 31 HP:0001762
22 brachydactyly 31 HP:0001156
23 micropenis 31 HP:0000054
24 overfolded helix 31 HP:0000396
25 bifid scrotum 31 HP:0000048
26 microphthalmia 31 HP:0000568
27 preauricular skin tag 31 HP:0000384
28 hip dislocation 31 HP:0002827
29 split hand 31 HP:0001171
30 hypospadias 31 HP:0000047
31 blepharophimosis 31 HP:0000581
32 aplasia cutis congenita of scalp 31 HP:0007385
33 hypoplastic pubic rami 31 HP:0008830
34 craniosynostosis 31 HP:0001363
35 thin vermilion border 31 HP:0000233
36 proximal placement of thumb 31 HP:0009623
37 toe syndactyly 31 HP:0001770
38 short metacarpal 31 HP:0010049
39 hypoplasia of the ulna 31 HP:0003022
40 postaxial hand polydactyly 31 HP:0001162
41 torticollis 31 HP:0000473
42 hypoplasia of the radius 31 HP:0002984
43 short clavicles 31 HP:0000894
44 cupped ear 31 HP:0000378
45 knee flexion contracture 31 HP:0006380
46 hypoplastic ischia 31 HP:0003175
47 aplasia/hypoplasia of the humerus 31 HP:0006507
48 dislocated radial head 31 HP:0003083
49 short phalanx of finger 31 HP:0009803
50 aplasia/hypoplasia of the nails 31 HP:0008386

Symptoms via clinical synopsis from OMIM:

56
Genitourinary External Genitalia Male:
inguinal hernia
micropenis
bifid scrotum
hypospadias

Head And Neck Neck:
short neck
torticollis
branchial pits

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

Head And Neck Face:
micrognathia

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

Skeletal Pelvis:
hip dislocation
hypoplastic pubic rami
hypoplastic ischia
flared iliac wings
hypoplastic iliac wings
more
Skeletal Feet:
syndactyly
short phalanges
short metatarsals
clubfeet
preaxial polydactyly with central gap

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 Eyes:
hypertelorism
ptosis
microphthalmia
blepharophimosis
epicanthal folds

Head And Neck Head:
microcephaly

Genitourinary Internal Genitalia Male:
cryptorchidism

Genitourinary Kidneys:
horseshoe kidney

Cardiovascular Heart:
atrial septal defect
total anomalous pulmonary venous connection

Skeletal Skull:
parietal foramina

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:

40
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. 56 61
19533791 2009
2
A syndrome of brachyphalangy, polydactyly and absent tibiae. 56 61
9134290 1997
3
Tibial aplasia, lower extremity mirror image polydactyly, brachyphalangy, craniofacial dysmorphism and genital hypoplasia: further delineation and mutational analysis. 56
15057119 2004
4
Brachyphalangy, feet polydactyly, absent/hypoplastic tibiae: a further case and review of main diagnostic findings. 56
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. 56
11311003 2001
6
Brachyphalangy, polydactyly and tibial aplasia/hypoplasia syndrome (OMIM 609945): case report and review of the literature. 61
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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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