Disease #04584 (CPSFS1A (contractures, pterygia, and spondylocarpostarsal fusion syndrome 1A), OMIM:178110)

Official abbreviation CPSFS1A
Name contractures, pterygia, and spondylocarpostarsal fusion syndrome 1A
OMIM ID 178110
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal dominant
Individuals reported having this disease 10
Phenotype entries for this disease 10
Associated with 1 gene MYH3
Associated tissues -
Disease features -
Remarks -
Date created 2015-09-23 10:25:23 +02:00 (CEST)
Date last edited 2021-12-10 21:51:32 +01:00 (CET)


Individuals

10 entries on 1 page. Showing entries 1 - 10.
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00074406 - PubMed: Chong 2015, Journal: Chong 2015 3-generation family, affected father and two daughters, PatIII1 F - United States - - - - - CPSFS1A downslanting palpebral fissures (HP:0000494), no ptosis (-HP:0000508), long nasal bridge (HP:?), no low-set posteriorly rotated ears (-HP:0000368), hypoplastic flexion creases (HP:?), camptodactyly (HP:0012385), no antecubital webbing (-HP:0009760), elbow contractures (HP:0002987), limited forearm supination (HP:0006394), no knee contractures (-HP:0006380), no popliteal webbing (-HP:0009756), no foot contractures (-HP:0005745), scoliosis (HP:0002650), short neck (HP:0000470), no neck webbing (-HP:0000465), short stature (HP:0004322), vertebral fusion C1-C2 (HP:0002948), webbing of fingers (HP:0006101) MYH3 MYH3 1 3 Jamie Zeegers
00074407 - PubMed: Chong 2015, Journal: Chong 2015 sister III2 F - United States - - - - - CPSFS1A downslanting palpebral fissures (HP:0000494), ptosis (HP:0000508), long nasal bridge (HP:?), no low-set posteriorly rotated ears (-HP:0000368), hypoplastic flexion creases (HP:?), camptodactyly (HP:0012385), no antecubital webbing (-HP:0009760), elbow contractures (HP:0002987), limited forearm supination (HP:0006394), knee contractures (HP:0006380), popliteal webbing (HP:0009756), no foot contractures (-HP:0005745), scoliosis (HP:0002650), short neck (HP:0000470), neck webbing (HP:0000465), short stature (HP:0004322), vertebral fusion T10-L3 (HP:0002948) MYH3 MYH3 1 1 Jamie Zeegers
00074408 - PubMed: Chong 2015, Journal: Chong 2015 father II2 M - United States - - - - - CPSFS1A downslanting palpebral fissures (HP:0000494), ptosis (HP:0000508), long nasal bridge (HP:?), no low-set posteriorly rotated ears (-HP:0000368), hypoplastic flexion creases (HP:?), camptodactyly (HP:0012385), no antecubital webbing (-HP:0009760), elbow contractures (HP:0002987), knee contractures (HP:0006380), no foot contractures (-HP:0005745), no scoliosis (-HP:0002650), short neck (HP:0000470), no neck webbing (-HP:0000465), no vertebral fusion (HP:0002948) MYH3 MYH3 1 1 Jamie Zeegers
00074409 - PubMed: Chong 2015, Journal: Chong 2015 3-generation family, affected father/daughter, PatIII2 F - United States - - - - - CPSFS1A downslanting palpebral fissures (HP:0000494), ptosis (HP:0000508), long nasal bridge (HP:?), low-set posteriorly rotated ears (HP:0000368), hypoplastic flexion creases (HP:?), camptodactyly (HP:0012385), no antecubital webbing (-HP:0009760), elbow contractures (HP:0002987), knee contractures (HP:0006380), no foot contractures (-HP:0005745), scoliosis (HP:0002650), short neck (HP:0000470), no neck webbing (-HP:0000465), short stature (HP:0004322) MYH3 MYH3 1 2 Jamie Zeegers
00074410 - PubMed: Chong 2015, Journal: Chong 2015 father II1 M - United States - - - - - CPSFS1A downslanting palpebral fissures (HP:0000494), ptosis (HP:0000508), long nasal bridge (HP:?), low-set posteriorly rotated ears (HP:0000368), hypoplastic flexion creases (HP:?), camptodactyly (HP:0012385), antecubital webbing (HP:0009760), elbow contractures (HP:0002987), limited forearm supination (HP:0006394), hip contractures (HP:0003273), knee contractures (HP:0006380), popliteal webbing (HP:0009756), metatarsus adductus (HP:0001840), scoliosis (HP:0002650), short neck (HP:0000470), neck webbing (HP:0000465), short stature (HP:0004322), mild cervical spinal stenosis (HP:0008445) MYH3 MYH3 1 1 Jamie Zeegers
00074411 - PubMed: Chong 2015, Journal: Chong 2015 5-generation family, 10 affecteds (4F, 6M), PatIII5 M - United States - - - - - CPSFS1A knee contractures (HP:0006380), scoliosis (HP:0002650), short neck (HP:0000470), short stature (HP:0004322), vertebral fusion C1-C2 (HP:0002948), craniosynostosis (HP:00013630) MYH3 MYH3 1 10 Jamie Zeegers
00074412 - PubMed: Chong 2015, Journal: Chong 2015 PatIV3 F - United States - - - - - CPSFS1A no downslanting palpebral fissures (-HP:0000494), no ptosis (-HP:0000508), no long nasal bridge (-HP:?), low-set posteriorly rotated ears (HP:0000368), hypoplastic flexion creases (HP:?), camptodactyly (HP:0012385), no antecubital webbing (-HP:0009760), no elbow contractures (-HP:0002987), no hip contractures (-HP:0003273), knee contractures (HP:0006380), popliteal webbing (HP:0009756), limited ankle dorsiflexion (HP:?), scoliosis (HP:0002650), short neck (HP:0000470), neck webbing (HP:0000465), short stature (HP:0004322), vertebral fusion (HP:0002948), cleft palate (HP:0000175), craniosynostosis (HP:0001363) MYH3 MYH3 1 1 Jamie Zeegers
00074413 - PubMed: Chong 2015, Journal: Chong 2015 PatV2 M - United States - - - - - CPSFS1A no downslanting palpebral fissures (-HP:0000494), no ptosis (-HP:0000508), no long nasal bridge (-HP:?), low-set posteriorly rotated ears (HP:0000368), hypoplastic flexion creases (HP:?), camptodactyly (HP:0012385), antecubital webbing (HP:0009760), elbow contractures (HP:0002987), knee contractures (HP:0006380), popliteal webbing (HP:0009756), no foot contractures (-HP:0005745), scoliosis (HP:0002650), short neck (HP:0000470), neck webbing (HP:0000465), vertebral fusion (HP:0002948), bilateral inguinal hernia (HP:0000023), spondylolisthesis (HP:0003302) MYH3 MYH3 1 1 Jamie Zeegers
00074497 25957469-FamDPatII1 PubMed: Chong 2015, Journal: Chong 2015 2-generation family, affected father/daughter, PatII1 F - United States - - - - - CPSFS1A downslanting palpebral fissures (HP:0000494), ptosis (HP:0000508), long nasal bridge (HP:?), low-set posteriorly rotated ears (HP:0000368), hypoplastic flexion creases (HP:?), camptodactyly (HP:0012385), no antecubital webbing (-HP:0009760), no elbow contractures (-HP:0002987), limited forearm supination (HP:0006394), hip contractures (HP:0003273), no knee contractures (-HP:0006380), no popliteal webbing (-HP:0009756), clubfeet (HP:0001762), scoliosis (HP:0002650), short neck (HP:0000470), neck webbing (HP:0000465), short stature (HP:0004322), no vertebral fusion (-HP:0002948), ventricular septal defect (HP:0001629) MYH3 - - 2 Jamie Zeegers
00074501 25957469-FamDPatI1 PubMed: Chong 2015, Journal: Chong 2015 father PatI1 M - United States - - - - - CPSFS1A downslanting palpebral fissures (HP:0000494), ptosis (HP:0000508), long nasal bridge (HP:?), low-set posteriorly rotated ears (HP:0000368), hypoplastic flexion creases (HP:?), camptodactyly (HP:0012385), no antecubital webbing (-HP:0009760), no elbow contractures (-HP:0002987), limited forearm supination (HP:0006394), no hip contractures (-HP:0003273), no knee contractures (-HP:0006380), no popliteal webbing (-HP:0009756), no foot contractures (-HP:0005745), no scoliosis (-HP:0002650), short neck (HP:0000470), neck webbing (HP:0000465), short stature (HP:0004322), no vertebral fusion (-HP:0002948), ventricular septal defect (HP:0001629) MYH3 - - 1 Jamie Zeegers
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