MCID: BRC046
MIFTS: 21

Brachyphalangy, Polydactyly, and Tibial Aplasia/hypoplasia

Categories: Rare diseases
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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 19
Brachyphalangy, Polydactyly and Absent Tibiae 19

Characteristics:


Inheritance:

Autosomal dominant 57

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, preaxial i and polydactyly. Affiliated tissues include kidney, skin and bone, and related phenotypes are ptosis and high palate

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, preaxial i 10.5
2 polydactyly 10.5
3 brachydactyly 10.4
4 pseudovaginal perineoscrotal hypospadias 10.4
5 penis agenesis 10.4

Graphical network of the top 20 diseases related to Brachyphalangy, Polydactyly, and Tibial Aplasia/hypoplasia:



Diseases related to Brachyphalangy, Polydactyly, and Tibial Aplasia/hypoplasia

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

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

30 (show top 50) (show all 71)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ptosis 30 HP:0000508
2 high palate 30 HP:0000218
3 short neck 30 HP:0000470
4 hearing impairment 30 HP:0000365
5 global developmental delay 30 HP:0001263
6 delayed skeletal maturation 30 HP:0002750
7 inguinal hernia 30 HP:0000023
8 hypertelorism 30 HP:0000316
9 wide nasal bridge 30 HP:0000431
10 short nose 30 HP:0003196
11 microcephaly 30 HP:0000252
12 broad thumb 30 HP:0011304
13 metatarsus adductus 30 HP:0001840
14 cryptorchidism 30 HP:0000028
15 micrognathia 30 HP:0000347
16 horseshoe kidney 30 HP:0000085
17 epicanthus 30 HP:0000286
18 pectus excavatum 30 HP:0000767
19 atrial septal defect 30 HP:0001631
20 short toe 30 HP:0001831
21 talipes equinovarus 30 HP:0001762
22 brachydactyly 30 HP:0001156
23 micropenis 30 HP:0000054
24 overfolded helix 30 HP:0000396
25 bifid scrotum 30 HP:0000048
26 microphthalmia 30 HP:0000568
27 preauricular skin tag 30 HP:0000384
28 hip dislocation 30 HP:0002827
29 split hand 30 HP:0001171
30 hypospadias 30 HP:0000047
31 blepharophimosis 30 HP:0000581
32 aplasia cutis congenita of scalp 30 HP:0007385
33 hypoplastic pubic rami 30 HP:0008830
34 craniosynostosis 30 HP:0001363
35 skin dimple 30 HP:0010781
36 thin vermilion border 30 HP:0000233
37 proximal placement of thumb 30 HP:0009623
38 toe syndactyly 30 HP:0001770
39 short metacarpal 30 HP:0010049
40 hypoplasia of the ulna 30 HP:0003022
41 postaxial hand polydactyly 30 HP:0001162
42 hypoplasia of the radius 30 HP:0002984
43 short clavicles 30 HP:0000894
44 cupped ear 30 HP:0000378
45 knee flexion contracture 30 HP:0006380
46 hypoplastic ischia 30 HP:0003175
47 aplasia/hypoplasia of the humerus 30 HP:0006507
48 dislocated radial head 30 HP:0003083
49 short phalanx of finger 30 HP:0009803
50 u-shaped upper lip vermilion 30 HP:0010806

Symptoms via clinical synopsis from OMIM®:

57 (Updated 24-Oct-2022)
Head And Neck Eyes:
ptosis
hypertelorism
microphthalmia
blepharophimosis
epicanthal folds

Genitourinary External Genitalia Male:
inguinal hernia
micropenis
bifid scrotum
hypospadias

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 Neck:
short neck
torticollis
branchial pits

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 (Updated 24-Oct-2022)

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

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

MalaCards : Kidney, Skin, Bone

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. 62 57
19533791 2009
2
A syndrome of brachyphalangy, polydactyly and absent tibiae. 62 57
9134290 1997
3
Tibial aplasia, lower extremity mirror image polydactyly, brachyphalangy, craniofacial dysmorphism and genital hypoplasia: further delineation and mutational analysis. 57
15057119 2004
4
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. 57
11311003 2001
5
Brachyphalangy, feet polydactyly, absent/hypoplastic tibiae: a further case and review of main diagnostic findings. 57
11310988 2001
6
Brachyphalangy, polydactyly and tibial aplasia/hypoplasia syndrome (OMIM 609945): case report and review of the literature. 62
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

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 24-Oct-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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