MCID: BLP011
MIFTS: 17

Blepharophimosis with Ptosis, Syndactyly, and Short Stature

Categories: Eye diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Blepharophimosis with Ptosis, Syndactyly, and Short Stature

MalaCards integrated aliases for Blepharophimosis with Ptosis, Syndactyly, and Short Stature:

Name: Blepharophimosis with Ptosis, Syndactyly, and Short Stature 56 52
Blepharophimosis-Ptosis-Esotropia-Syndactyly-Short Stature Syndrome 58
Blepharophimosis - Ptosis - Esotropia - Syndactyly - Short Stature 52
Frydman Cohen Karmon Syndrome 52
Frydman-Cohen-Karmon Syndrome 58

Characteristics:

Orphanet epidemiological data:

58
blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
blepharophimosis with ptosis, syndactyly, and short stature:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare eye diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM 56 210745
ICD10 via Orphanet 33 Q87.8
UMLS via Orphanet 72 C1859432
Orphanet 58 ORPHA2057
MedGen 41 C1859432

Summaries for Blepharophimosis with Ptosis, Syndactyly, and Short Stature

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2057 Definition A rare syndrome characterised by the association of blepharophimosis and ptosis , V-esotropia, and weakness of extraocular and frontal muscles with syndactyly of the toes, short stature , prognathism, and hypertrophy and fusion of the eyebrows. Visit the Orphanet disease page for more resources.

MalaCards based summary : Blepharophimosis with Ptosis, Syndactyly, and Short Stature, is also known as blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome. Affiliated tissues include eye, and related phenotypes are mandibular prognathia and thick eyebrow

More information from OMIM: 210745

Related Diseases for Blepharophimosis with Ptosis, Syndactyly, and Short Stature

Symptoms & Phenotypes for Blepharophimosis with Ptosis, Syndactyly, and Short Stature

Human phenotypes related to Blepharophimosis with Ptosis, Syndactyly, and Short Stature:

58 31 (show all 19)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 mandibular prognathia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000303
2 thick eyebrow 58 31 hallmark (90%) Very frequent (99-80%) HP:0000574
3 ptosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000508
4 abnormal cranial nerve morphology 58 31 hallmark (90%) Very frequent (99-80%) HP:0001291
5 highly arched eyebrow 58 31 hallmark (90%) Very frequent (99-80%) HP:0002553
6 blepharophimosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000581
7 synophrys 58 31 hallmark (90%) Very frequent (99-80%) HP:0000664
8 esotropia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000565
9 short stature 58 31 frequent (33%) Frequent (79-30%) HP:0004322
10 hypertelorism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000316
11 thick lower lip vermilion 58 31 occasional (7.5%) Occasional (29-5%) HP:0000179
12 anosmia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000458
13 intellectual disability, borderline 58 31 occasional (7.5%) Occasional (29-5%) HP:0006889
14 wide nasal bridge 31 HP:0000431
15 abnormality of the foot 31 HP:0001760
16 cutaneous finger syndactyly 31 HP:0010554
17 weak extraocular muscles 31 HP:0007715
18 frontalis muscle weakness 31 HP:0004661
19 hypertropia 31 HP:0025586

Symptoms via clinical synopsis from OMIM:

56
Growth Height:
short stature

Skin Nails Hair Hair:
synophrys
thick eyebrows

Head And Neck Nose:
broad nasal bridge

Head And Neck Mouth:
thick lips

Skeletal Feet:
cutaneous syndactyly (toes 2-3)

Head And Neck Eyes:
ptosis
blepharophimosis
synophrys
weak extraocular muscles
hypertropia
more
Muscle Soft Tissue:
weak extraocular muscles
weak frontalis muscle

Head And Neck Face:
prognathism

Head And Neck Head:
borderline small occipitofrontal head circumference (3rd-25th percentile)

Neurologic Central Nervous System:
anosmia (1 patient)
mental retardation, borderline (1 patient)

Clinical features from OMIM:

210745

Drugs & Therapeutics for Blepharophimosis with Ptosis, Syndactyly, and Short Stature

Search Clinical Trials , NIH Clinical Center for Blepharophimosis with Ptosis, Syndactyly, and Short Stature

Genetic Tests for Blepharophimosis with Ptosis, Syndactyly, and Short Stature

Anatomical Context for Blepharophimosis with Ptosis, Syndactyly, and Short Stature

MalaCards organs/tissues related to Blepharophimosis with Ptosis, Syndactyly, and Short Stature:

40
Eye

Publications for Blepharophimosis with Ptosis, Syndactyly, and Short Stature

Articles related to Blepharophimosis with Ptosis, Syndactyly, and Short Stature:

# Title Authors PMID Year
1
Congenital ptosis with esotropia in brothers. 56
12868474 2003
2
Autosomal recessive blepharophimosis, ptosis, V-esotropia, syndactyly and short stature. 56
1311991 1992

Variations for Blepharophimosis with Ptosis, Syndactyly, and Short Stature

Expression for Blepharophimosis with Ptosis, Syndactyly, and Short Stature

Search GEO for disease gene expression data for Blepharophimosis with Ptosis, Syndactyly, and Short Stature.

Pathways for Blepharophimosis with Ptosis, Syndactyly, and Short Stature

GO Terms for Blepharophimosis with Ptosis, Syndactyly, and Short Stature

Sources for Blepharophimosis with Ptosis, Syndactyly, and Short Stature

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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