Lethal congenital contracture syndrome (LCCS) is a group of genetically heterogeneous disorders characterized by multiple congenital joint contractures, intrauterine growth retardation, dysmorphic facial features, pulmonary hypoplasia, muscular atrophy, decreased fetal movement, and polyhydramnios. Akinesia, hypotonia, areflexia, diaphragmatic atrophy and pterygium may also be present.
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Lethal congenital contracture syndrome (LCCS) is a group of genetically heterogeneous disorders characterized by multiple congenital joint contractures, intrauterine growth retardation, dysmorphic facial features, pulmonary hypoplasia, muscular atrophy, decreased fetal movement, and polyhydramnios. Akinesia, hypotonia, areflexia, diaphragmatic atrophy and pterygium may also be present.
The lethal congenital contractual syndrome and related disorders NGS Panel consists of twenty-two genes: ADCY6, ADGRG6, CHRNA1, CHRND, CHRNG, CNTNAP1, DNM2, DOK7, ERBB3, GLDN, GLE1, LGI4, LMNA, MUSK, MYBPC1, NEK9, PIP5K1C, RAPSN, VIPAS39, VPS33B, ZBTB42 and ZMPSTE24.
Copy number variation (CNV) analysis of the LCCS and related disorders genes is also offered as a panel. Additionally, CTGT offers a comprehensive test (both NGS and CNV panels) for these genes. Panel genes are also offered as individual sequencing and deletion/duplication tests, unless otherwise indicated.
Gene |
Disorder |
MIM |
Inheritance |
ADCY6 |
Lethal congenital contracture syndrome 8 (LCCS8) |
616287 |
AR |
ADGRG6 |
Lethal congenital contracture syndrome 9 (LCCS9) |
616503 |
AR |
CHRNA1 |
Multiple pterygium syndrome, lethal type (LMPS) Myasthenic syndrome, congenital, 1A, slow-channel (CMS1A) Myasthenic syndrome, congenital, 1B, fast-channel (CMS1B) |
253290 601462 608930 |
AR AD AR / AD |
CHRND |
Multiple pterygium syndrome, lethal type (LMPS) Myasthenic syndrome, congenital, 3A, slow-channel (CMS3A) Myasthenic syndrome, congenital, 3B, fast-channel (CMS3B) Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency (CMS3C) |
253290 616321 616322 616323 |
AR AD AR AR |
CHRNG |
Multiple pterygium syndrome, lethal type (LMPS) Multiple pterygium syndrome, Escobar variant (EVMPS) |
253290 265000 |
AR AR |
CNTNAP1 |
Lethal congenital contracture syndrome 7 (LCCS7) |
616286 |
AR |
DNM2 |
Lethal congenital contracture syndrome 5 (LCCS5) Charcot-Marie-Tooth disease, dominant intermediate B (CMTDIB) Myopathy, centronuclear 1 (CNM1) |
615368 606482 160150 |
AR AD AD |
DOK7 |
Fetal akinesia deformation sequence (FADS) Myasthenic syndrome, congenital, 10 (CMS10) |
208150 254300 |
AR AR |
ERBB3 |
Lethal congenital contracture syndrome 2 (LCCS2) |
607598 |
AR |
GLDN |
Lethal congenital contracture syndrome 11 (LCCS11) |
617194 |
AR |
GLE1 |
Lethal congenital contracture syndrome 1 (LCCS1) Arthrogryposis, lethal, with anterior horn cell disease (LAAHD) |
253310 611890 |
AR AR |
LGI4 |
Arthrogryposis multiplex congenita, LGI4 related |
- |
AR |
LMNA |
Restrictive dermopathy, lethal Charcot-Marie-Tooth disease, axonal, type 2B1 (CMT2B1) Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) Emery-Dreifuss muscular dystrophy 3, autosomal recessive (EDMD3) Mandibuloacral dysplasia (MADA) Muscular dystrophy, congenital, LMNA related Muscular dystrophy, limb-girdle, type 1B (LGMD1B) |
275210 605588 181350 616516 248370 613205 159001 |
AR AR AD AR AR AD AD |
MUSK |
Fetal akinesia deformation sequence (FADS) Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency (CMS9) |
208150 616325 |
AR AR |
MYBPC1 |
Lethal congenital contracture syndrome 4 (LCCS4) Arthrogryposis, distal, type 1B (DA1B) |
614915 614335 |
AR AD |
NEK9 |
Lethal congenital contracture syndrome 10 (LCCS10) Arthrogryposis, Perthes disease, and upward gaze palsy (APUG) |
617022 614262 |
AR AR |
PIP5K1C |
Lethal congenital contracture syndrome 3 (LCCS3) |
611369 |
AR |
RAPSN |
Fetal akinesia deformation sequence (FADS) Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency (CMS11) |
208150 616326 |
AR AR |
VIPAS39 |
Arthrogryposis, renal dysfunction, and cholestasis 2 (ARCS2) |
613404 |
AR |
VPS33B |
Arthrogryposis, renal dysfunction, and cholestasis 1 (ARCS1) |
208085 |
AR |
ZBTB42 |
Lethal congenital contracture syndrome 6 (LCCS6) |
616248 |
AR |
ZMPSTE24 |
Restrictive dermopathy, lethal Mandibuloacral dysplasia with type B lipodystrophy (MADB) |
275210 608612 |
AR AR |
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