Disease #00578 (SCT (spondylocarpotarsal synostosis syndrome (SCT)), OMIM:272460)

Official abbreviation SCT
Name spondylocarpotarsal synostosis syndrome (SCT)
OMIM ID 272460
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive
Individuals reported having this disease 24
Phenotype entries for this disease 22
Associated with 1 gene FLNB
Associated tissues -
Disease features -
Remarks -
Date created 2014-09-25 23:29:40 +02:00 (CEST)
Date last edited 2021-12-10 21:51:32 +01:00 (CET)


Individuals

24 entries on 1 page. Showing entries 1 - 24.
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00060260 Fam1PatII2 PubMed: Carapito 2016 2-generation family, affected mother/son F - France - - - - - SCT see paper; ..., short stature; short trunk; thoracolumbar fusions; scoliosis; cervical fusion; short neck; sacral anomaly; carpal fusion; tarsal fusion; joint mobility limitation; clinodactyly 5th; no elbow, knee and shoulder pterygium; no single palmar crease; hearing loss; high arched/cleft palate; no inguinal hernia; facial dysmorphy; no pterygium colli; no respiratory failure - MYH3, SYT14 2 2 Raphael Carapito
00060275 Fam1PatIII2 PubMed: Carapito 2016 - M no France - - - - - SCT see paper; ..., short stature; short trunk; thoracolumbar fusions; scoliosis; no cervical fusion; short neck; sacral anomaly; joint mobility limitation; clinodactyly 5th; no elbow, knee and shoulder pterygium; no single palmar crease; hearing loss; high arched/cleft palate; inguinal hernia; facial dysmorphy; no pterygium colli; no respiratory failure - MYH3 1 1 Raphael Carapito
00060276 Fam2PatI2 PubMed: Carapito 2016 2-generation family, affected mother/daughter F ? France - - - - - SCT see paper; ..., no short stature; no short trunk; no thoracolumbar fusions; no scoliosis; cervical fusion; short neck; no sacral anomaly; carpal fusion; tarsal fusion; joint mobility limitation; clinodactyly 5th; no elbow, knee and shoulder pterygium; single palmar crease; no hearing loss; high arched/cleft palate; no inguinal hernia; facial dysmorphy; pterygium colli; no respiratory failure - MYH3 1 2 Raphael Carapito
00060277 Fam2PatII1 PubMed: Carapito 2016 daughter F no France - - - - - SCT see paper; ..., short stature; short trunk; thoracolumbar fusions; scoliosis; cervical fusion; short neck; sacral anomaly; carpal fusion; tarsal fusion; joint mobility limitation; no clinodactyly 5th; elbow, knee and shoulder pterygium; no single palmar crease; no hearing loss; high arched/cleft palate; inguinal hernia; facial dysmorphy; pterygium colli; respiratory failure - MYH3 1 1 Raphael Carapito
00247428 - - - - yes - - - - - - SCT - FLNB FLNB 1 1 LOVD
00247429 - - - - - - - - - - - SCT - FLNB FLNB 2 1 Stephen Robertson
00247430 - - - - - - - - - - - SCT - FLNB FLNB 2 1 Stephen Robertson
00247431 - - - - - - - - - - - SCT - FLNB FLNB 2 1 Stephen Robertson
00247432 - - - - - - - - - - - SCT - FLNB FLNB 2 1 Stephen Robertson
00247433 - - - - - - - - - - - SCT - FLNB FLNB 2 1 Stephen Robertson
00247438 - - - - - - - - - - - SCT - FLNB FLNB 2 1 LOVD
00247439 - - - - - - - - - - - SCT - FLNB FLNB 2 1 LOVD
00247440 - - - - - - - - - - - SCT - FLNB FLNB 2 1 Stephen Robertson
00247506 - - - - yes - - - - - - SCT - FLNB FLNB 2 1 LOVD
00247509 - - - - - - - - - - - SCT - FLNB FLNB 2 1 LOVD
00247510 - - - - yes - - - - - - SCT - FLNB FLNB 2 1 LOVD
00247511 - - - - - - - - - - - SCT - FLNB FLNB 1 1 LOVD
00247512 - - - - - - - - - - - SCT - FLNB FLNB 2 1 Stephen Robertson
00247513 - - - - yes - - - - - - SCT - FLNB FLNB 1 1 LOVD
00247514 - - - - - - - - - - - SCT - FLNB FLNB 2 1 Stephen Robertson
00247516 - - - F no Taiwan - - - - - SCT This patient shows some clinical presentation and radiological features of SCT, including multiple synostosis of cervical, thoracic, and lumbar vertebral bodies, carpal fusion, scoliosis, clinodactyly of the fifth fingers, and flat foot. Rib anomalies including rib crowding, malalignment, and uneven size and shape are rarely reported in SCT cases and are noted in this patient. Hearing loss and muscle weakness are present in this patient. FLNB FLNB 1 2 Chi-Fan Yang
00267049 SYD07 III:1 - - M yes Pakistan Asian 32y - yes No SCT short stature, short neck, dysmorphic face FLNB FLNB 1 5 Samina Yasin
00449791 - - - - - - - - - - - SCT - FLNB FLNB 2 1 Dan Feng Fang
00449793 - - - - - - - - - - - SCT - FLNB FLNB 2 1 Dan Feng Fang
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