Klinische FragestellungArthrogrypose, Differentialdiagnose

NGS +

Arthrogryposis oder Arthrogryposis multiplex congenita bezeichnet nicht-progressive Erkrankungen, die durch multiple Gelenkkontrakturen im gesamten Körper gekennzeichnet sind. Gliedmaßen-Deformitäten (Hautfalten, Verkürzungen, dislozierte Knochen, Luxationen), Skoliose, Genitalfehlbildungen und Hernien werden beobachtet. Die Gesichtsdeformitäten umfassen u.a. Asymmetrie, Hämangiom und Mikrognathie. Fehlbildungen können auch Kraniosynostosen, die Augen, den Gaumen und das zentrale Nervensystem betreffen. Die etwa 400 heterogenen Erkrankungen, die die gemeinsamen Merkmale der multiplen Kontrakturen verursachen, werden fast immer autosomal dominant oder rezessiv vererbt. Pränatal kann die molekulargenetische diagnostische Ausbeute in schweren Fällen über 50% betragen, postnatal hängt die Ausbeute ebenfalls stark von der Qualität der klinischen Abklärung ab und kann 60% übertreffen. Ein negatives Ergebnis stellt keinen Ausschluss der klinischen Diagnose dar.

Referenzen: https://doi.org/10.3389/fphys.2020.00689

https://doi.org/10.1002/ajmg.c.31721

https://www.jci.org/articles/view/84457

• Alias: Arthrogryposis syndrome
• Allelic: Achondroplasia (FGFR3)
• Allelic: Antley-Bixler syndrome with genital anomalies + disordered steroidogenesis (POR)
• Allelic: Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis (FGFR2)
• Allelic: Apert syndrome (FGFR2)
• Allelic: Arrhythmogenic right ventricular dysplasia 1 (TGFB3)
• Allelic: Avascular necrosis of femoral head, primary, 2 (TRPV4)
• Allelic: Barrett esophagusesophageal adenocarcinoma (ASCC1)
• Allelic: Beare-Stevenson cutis gyrata syndrome (FGFR2)
• Allelic: Bethlem myopathy 1 (COL6A1, COL6A2, COL6A3)
• Allelic: Bethlem myopathy 2 (COL12A1)
• Allelic: Bladder cancer, somatic (FGFR3)
• Allelic: Bohring-Opitz [Opitz trigonocephaly-like] syndrome (ASXL1)
• Allelic: Brachyolmia type 3 (TRPV4)
• Allelic: CAP myopathy 1 (TPM3)
• Allelic: CAP myopathy 2 (TPM2)
• Allelic: CATSHL syndrome (FGFR3)
• Allelic: CHAND syndrome (RIPK4)
• Allelic: Camptodactyly-arthropathy-coxa vara-pericarditis syndrome (PRG4)
• Allelic: Cardiomyopathy, dilated, 1G (TTN)
• Allelic: Cardiomyopathy, dilated, 1S (MYH7)
• Allelic: Cardiomyopathy, dilated, 1X (FKTN)
• Allelic: Cardiomyopathy, familial hypertrophic, 26 (FLNC)
• Allelic: Cardiomyopathy, familial hypertrophic, 9 (TTN)
• Allelic: Cardiomyopathy, familial restrictive 5 (FLNC)
• Allelic: Cardiomyopathy, hypertrophic, 1 (MYH7)
• Allelic: Central core disease (RYR1)
• Allelic: Centronuclear myopathy 1 (DNM2)
• Allelic: Cervical cancer, somatic (FGFR3)
• Allelic: Charcot-Marie-Tooth disease, axonal type 2M (DNM2)
• Allelic: Charcot-Marie-Tooth disease, axonal, type 20 (DYNC1H1)
• Allelic: Charcot-Marie-Tooth disease, dominant intermediate B (DNM2)
• Allelic: Cockayne syndrome, type B (ERCC6)
• Allelic: Cold-induced sweating syndrome 1 (CRLF1)
• Allelic: Colorectal cancer, hereditary nonpolyposis, type 6 (TGFBR2)
• Allelic: Colorectal cancer, somatic (FGFR3)
• Allelic: Congenital disorder of glycosylation, type Id (ALG3)
• Allelic: Congenital disorder of glycosylation, type Ij (DPAGT1)
• Allelic: Congenital myopathy (TPM2)
• Allelic: Craniofacial-skeletal-dermatologic dysplasia (FGFR2)
• Allelic: Craniosynostosis, nonspecific (FGFR2)
• Allelic: Crouzon syndrome (FGFR2)
• Allelic: Crouzon syndrome with acanthosis nigricans (FGFR3)
• Allelic: De Sanctis-Cacchione syndrome (ERCC6)
• Allelic: Desmosterolosis (DHCR24)
• Allelic: Digital arthropathy-brachydactyly, familial (TRPV4)
• Allelic: Disordered steroidogenesis due to cytochrome P450 oxidoreductase (POR)
• Allelic: Dravet syndrome (SCN1A)
• Allelic: Dyssegmental dysplasia, Silverman-Handmaker type (HSPG2)
• Allelic: Dystonia 27 (COL6A3)
• Allelic: Dystonia-1, modifier of (TOR1A)
• Allelic: Dystonia-1, torsion (TOR1A)
• Allelic: Emery-Dreifuss muscular dystrophy 4, AD (SYNE1)
• Allelic: Epileptic encephalopathy, early infantile, 69 (CACNA1E)
• Allelic: Erythroleukemia, familial, susceptibility to (ERBB3)
• Allelic: Esophageal cancer, somatic (TGFBR2)
• Allelic: Focal segmental glomerulosclerosis 10 (LMX1B)
• Allelic: Gastric cancer, somatic (FGFR2)
• Allelic: Gaucher disease, types I, II, III, IIIC (GBA)
• Allelic: Genitopatellar syndrome (KAT6B)
• Allelic: Heimler syndrome 1 (PEX1)
• Allelic: Hereditary motor + sensory neuropathy, type IIc (TRPV4)
• Allelic: Hyaline fibromatosis syndrome (ANTXR2)
• Allelic: Hyperkalemic periodic paralysis, type 2 (SCN4A)
• Allelic: Hypochondroplasia (FGFR3)
• Allelic: Hypokalemic periodic paralysis, type 2 (SCN4A)
• Allelic: Hypomyelinating neuropathy, congenital, 3 (CNTNAP1)
• Allelic: Hypotonia, infantile, psychomotor retardation + characteristic facies 1 (NALCN)
• Allelic: Immunodeficiency 10 (STIM1)
• Allelic: Immunodeficiency 9 (ORAI1)
• Allelic: Jackson-Weiss syndrome (FGFR2)
• Allelic: Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome (SMAD4)
• Allelic: King-Denborough syndrome (RYR1)
• Allelic: LADD syndrome (FGFR2)
• Allelic: LADD syndrome (FGFR3)
• Allelic: Laing distal myopathy (MYH7)
• Allelic: Larsen syndrome (FLNB)
• Allelic: Left ventricular noncompaction 5 (MYH7)
• Allelic: Loeys-Dietz syndrome 1 (TGFBR1)
• Allelic: Loeys-Dietz syndrome 2 (TGFBR2)
• Allelic: Loeys-Dietz syndrome 3 (SMAD3)
• Allelic: Loeys-Dietz syndrome 4 (TGFB2)
• Allelic: Loeys-Dietz syndrome 5 (TGFB3)
• Allelic: MEND syndrome (EBR)
• Allelic: Macular degeneration, early-onset (FBN2)
• Allelic: Malignant hyperthermia susceptibility 1 (RYR1)
• Allelic: Mandibuloacral dysplasia with type B lipodystrophy (ZMPSTE24)
• Allelic: Meckel syndrome 12 (KIF14)
• Allelic: Mental retardation, AD 13 (DYNC1H1)
• Allelic: Metatropic dysplasia (TRPV4)
• Allelic: Microcephaly 20, primary, AR (KIF14)
• Allelic: Minicore myopathy with external ophthalmoplegia (RYR1)
• Allelic: Muenke syndrome (FGFR3)
• Allelic: Multiple self-healing squamous epithelioma, susceptibility to (TGFBR1)
• Allelic: Musc. dystrophy-dystroglycanopathy (limb-girdle), type C, 14 (GMPPB)
• Allelic: Musc. dystrophy-dystroglycanopathy (limb-girdle), type C, 4 (FKTN)
• Allelic: Musc. dystrophy-dystroglycanopathy (limb-girdle), type C, 5 (FKRP)
• Allelic: Musc. dystrophy-dystroglycanopathy (limb-girdle), type C, 7 (CRPPA)
• Allelic: Musc. dystrophy-dystroglycanopathy (limb-girdle), type C, 9 (DAG1)
• Allelic: Musc. dystrophy-dystroglycanopathy, cong. with brain + eye anom., type A, 11 (B3GALNT2)
• Allelic: Musc. dystrophy-dystroglycanopathy, cong. with brain + eye anomalies, type A, 1 (POMT1)
• Allelic: Musc. dystrophy-dystroglycanopathy, cong. with brain + eye anomalies, type A, 12 (POMK)
• Allelic: Musc. dystrophy-dystroglycanopathy, cong. with brain + eye anomalies, type A, 13 (B4GAT1)
• Allelic: Musc. dystrophy-dystroglycanopathy, cong. with brain + eye anomalies, type A, 14 (GMPPB)
• Allelic: Musc. dystrophy-dystroglycanopathy, cong. with brain + eye anomalies, type A, 2 (POMT2)
• Allelic: Musc. dystrophy-dystroglycanopathy, cong. with brain + eye anomalies, type A, 4 (FKTN)
• Allelic: Musc. dystrophy-dystroglycanopathy, cong. with brain + eye anomalies, type A, 5 (FKRP)
• Allelic: Musc. dystrophy-dystroglycanopathy, cong. with brain + eye anomalies, type A, 6 (LARGE1)
• Allelic: Musc. dystrophy-dystroglycanopathy, cong. with brain + eye anomalies, type A, 7 (CRPPA)
• Allelic: Musc. dystrophy-dystroglycanopathy, cong. with brain + eye anomalies, type A, 8 (POMGNT2)
• Allelic: Musc. dystrophy-dystroglycanopathy, cong. with brain + eye anomalies, type A, 9 (DAG1)
• Allelic: Musc. dystrophy-dystroglycanopathy, cong. with mental retardation, type B, 1 (POMT1)
• Allelic: Musc. dystrophy-dystroglycanopathy, cong. with mental retardation, type B, 14 (GMPPB)
• Allelic: Musc. dystrophy-dystroglycanopathy, cong. with mental retardation, type B, 2 (POMT2)
• Allelic: Musc. dystrophy-dystroglycanopathy, cong. with mental retardation, type B, 6 (LARGE1)
• Allelic: Musc. dystrophy-dystroglycanopathy, cong. with/-out mental retardation, type B, 5 (FKRP)
• Allelic: Musc. dystrophy-dystroglycanopathy, cong. without mental retardation, type B, 4 (FKTN)
• Allelic: Muscular dystrophy, cong., merosin deficient or partially deficient (LAMA2)
• Allelic: Muscular dystrophy, limb-girdle, AR 10 (TTN)
• Allelic: Muscular dystrophy, limb-girdle, AR 23 (LAMA2)
• Allelic: Muscular dystrophy, rigid spine, 1 (SELENON)
• Allelic: Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1 (POMT1)
• Allelic: Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 12 (POMK)
• Allelic: Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2 (POMT2)
• Allelic: Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 8 (POMGNT2)
• Allelic: Muscular dystrophy-dystroglycanopathy [cong. with mental retardation], type B, 6 (LARGE1)
• Allelic: Myasthenic syndrome, cong., 10 (DOK7)
• Allelic: Myasthenic syndrome, cong., 11, ass. with acetylcholine receptor deficiency (RAPSN)
• Allelic: Myasthenic syndrome, cong., 13, with tubular aggregates (DPAGT1)
• Allelic: Myasthenic syndrome, cong., 16 (SCN4A)
• Allelic: Myasthenic syndrome, cong., 1A, slow-channel (CHRNA1)
• Allelic: Myasthenic syndrome, cong., 1B, fast-channel (CHRNA1)
• Allelic: Myasthenic syndrome, cong., 20, presynaptic (SLC5A7)
• Allelic: Myasthenic syndrome, cong., 25 (VAMP1)
• Allelic: Myasthenic syndrome, cong., 2A, slow-channel (CHRNB1)
• Allelic: Myasthenic syndrome, cong., 2C, ass. with acetylcholine receptor deficiency (CHRNB1)
• Allelic: Myasthenic syndrome, cong., 3A, slow-channel (CHRND)
• Allelic: Myasthenic syndrome, cong., 3B, fast-channel (CHRND)
• Allelic: Myasthenic syndrome, cong., 3C, ass. with acetylcholine receptor deficiency (CHRND)
• Allelic: Myasthenic syndrome, cong., 4A, slow-channel (CHRNE)
• Allelic: Myasthenic syndrome, cong., 4B, fast-channel (CHRNE)
• Allelic: Myasthenic syndrome, cong., 4C, ass. with acetylcholine receptor deficiency (CHRNE)
• Allelic: Myasthenic syndrome, cong., 5 (COLQ)
• Allelic: Myasthenic syndrome, cong., 6, presynaptic (CHAT)
• Allelic: Myasthenic syndrome, cong., 9, ass. with acetylcholine receptor deficiency (MUSK)
• Allelic: Myelodysplastic syndrome, somatic (ASXL1)
• Allelic: Myhre syndrome (SMAD4)
• Allelic: Myopathy, actin, congenital, with cores (ACTA1)
• Allelic: Myopathy, actin, congenital, with excess of thin myofilaments (ACTA1)
• Allelic: Myopathy, cong., diaphragm. defects, respiratory insufficiency dysmorphic facies (MYOD1)
• Allelic: Myopathy, congenital, Baily-Bloch (STAC3)
• Allelic: Myopathy, congenital, Compton-North (CNTN1)
• Allelic: Myopathy, congenital, with fast-twitch (type II) fiber atrophy (MYL1)
• Allelic: Myopathy, congenital, with fiber-type disproportion (SELENON)
• Allelic: Myopathy, congenital, with fiber-type disproportion (TPM3)
• Allelic: Myopathy, congenital, with fiber-type disproportion 1 (ACTA1)
• Allelic: Myopathy, congenital, with tremor (MYBPC1)
• Allelic: Myopathy, distal, 4 (FLNC)
• Allelic: Myopathy, myofibrillar, 5 (FLNC)
• Allelic: Myopathy, myofibrillar, 9, with early respiratory failure (TTN)
• Allelic: Myopathy, myosin storage, AD/AR (MYH7)
• Allelic: Myopathy, scapulohumeroperoneal (ACTA1)
• Allelic: Myopathy, tubular aggregate, 1 (STIM1)
• Allelic: Myopathy, tubular aggregate, 2 (ORAI1)
• Allelic: Myosclerosis, congenital (COL6A2)
• Allelic: Myotonia congenita, atypical, acetazolamide-responsive (SCN4A)
• Allelic: Myotubular myopathy, XL (MTM1)
• Allelic: Nail-patella syndrome (LMX1B)
• Allelic: Nemaline myopathy 1, AD/AR (TPM3)
• Allelic: Nemaline myopathy 10 (LMOD3)
• Allelic: Nemaline myopathy 3, AD/AR (ACTA1)
• Allelic: Nemaline myopathy 4, AD (TPM2)
• Allelic: Nemaline myopathy 8, AR (KLHL40)
• Allelic: Nemaline myopathy 9, AR (KLHL41)
• Allelic: Neuromuscular disease, congenital, with uniform type 1 fiber (RYR1)
• Allelic: Neuronopathy, distal hereditary motor, type VIIA (SLC5A7)
• Allelic: Neuronopathy, distal hereditary motor, type VIII (TRPV4)
• Allelic: Nevus, epidermal, somatic (FGFR3)
• Allelic: Orofacial cleft 6 (IRF6)
• Allelic: Osteogenesis imperfecta, type XI (FKBP10)
• Allelic: PERCHING syndrome (KLHL7)
• Allelic: Pancreatic cancer, somatic (SMAD4)
• Allelic: Paramyotonia congenita (SCN4A)
• Allelic: Parastremmatic dwarfism (TRPV4)
• Allelic: Peroxisome biogenesis disorder 1A [Zellweger] + 1B [NALD(IRD]
• Allelic: Pfeiffer syndrome (FGFR2)
• Allelic: Polyglucosan body disease, adult form (GBE1)
• Allelic: Polyposis, juvenile intestinal (SMAD4)
• Allelic: Pontocerebellar hypoplasia type 2A, 4, 5 (TSEN54)
• Allelic: Pontocerebellar hypoplasia, type 1B (EXOSC3)
• Allelic: Popliteal pterygium syndrome 1 (IRF6)
• Allelic: Retinitis pigmentosa 42 (KLHL7)
• Allelic: SADDAN (FGFR3)
• Allelic: SBBYSS syndrome (KAT6B)
• Allelic: Saethre-Chotzen syndrome (FGFR2)
• Allelic: Salih myopathy (TTN)
• Allelic: Scaphocephaly + Axenfeld-Rieger anomaly (FGFR2)
• Allelic: Scaphocephaly, maxillary retrusion + mental retardation (FGFR2)
• Allelic: Scapuloperoneal spinal muscular atrophy (TRPV4)
• Allelic: Scapuloperoneal syndrome, myopathic type (MYH7)
• Allelic: Schwartz-Jampel syndrome, type 1 (HSPG2)
• Allelic: Shprintzen-Goldberg syndrome (SKI)
• Allelic: Sodium serum level QTL 1 (TRPV4)
• Allelic: Spastic ataxia 1, AD (VAMP1)
• Allelic: Spastic paraplegia, intellectual disability, nystagmus, obesity (KIDINS220)
• Allelic: Spermatocytic seminoma, somatic (FGFR3)
• Allelic: Spinal muscular atrophy, lower extremity-predominant 1, AD (DYNC1H1)
• Allelic: Spinal muscular atrophy, lower extremity-predominant, 2A, AD (BICD2)
• Allelic: Spinal muscular atrophy, lower extremity-predominant, 2B, AD (BICD2)
• Allelic: Spinocerebellar ataxia, AR 8 (SYNE1)
• Allelic: Spondylocarpotarsal synostosis syndrome (FLNB)
• Allelic: Spondyloepiphyseal dysplasia, Maroteaux type (TRPV4)
• Allelic: Spondylometaphyseal dysplasia, Kozlowski type (TRPV4)
• Allelic: Stormorken syndrome (STIM1)
• Allelic: Tibial muscular dystrophy, tardive (TTN)
• Allelic: UV-sensitive syndrome 1 (ERCC6)
• Allelic: Ullrich congenital muscular dystrophy 1 (COL6A1, COL6A2, COL6A3)
• Allelic: Ullrich congenital muscular dystrophy 2 (COL12A1)
• Allelic: van der Woude syndrome (IRF6)
• Alkuraya-Kucinskas syndrome [arthrogryposis, brain abnormalities, development delay] (KIAA1109)
• Arthrogryposis (lethal), with anterior horn cell disease (GLE1)
• Arthrogryposis multiplex congenita (MYH3, TNNI2, TPM2)
• Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect (LGI4)
• Arthrogryposis multiplex congenita 2, neurogenic type (ERGIC1)
• Arthrogryposis multiplex congenita 3, myogenic type (SYNE1)
• Arthrogryposis multiplex congenita 4, neurogenic, agenesis of the corpus callosum (SCYL2)
• Arthrogryposis multiplex congenita 5 (TOR1A)
• Arthrogryposis multiplex congenita [panelapp] (SCN1A)
• Arthrogryposis multiplex congenita, distal, type 1 (TPM2)
• Arthrogryposis, Perthes disease, and upward gaze palsy (NEK9)
• Arthrogryposis, distal, type 1A (TPM2)
• Arthrogryposis, distal, type 1B (MYBPC1)
• Arthrogryposis, distal, type 1C (MYL11)
• Arthrogryposis, distal, type 2A [Freeman-Sheldon] (MYH3)
• Arthrogryposis, distal, type 2B1 (TNNI2)
• Arthrogryposis, distal, type 2B2 (TNNT3)
• Arthrogryposis, distal, type 2B3 [Sheldon-Hall] (MYH3)
• Arthrogryposis, distal, type 3 (PIEZO2)
• Arthrogryposis, distal, type 5 (PIEZO2)
• Arthrogryposis, distal, type 5D (ECEL1)
• Arthrogryposis, distal, with impaired proprioception + touch (PIEZO2)
• Arthrogryposis, renal dysfunction + cholestasis 1 (VPS33B)
• Atelosteogenesis, type I (FLNB)
• Atelosteogenesis, type III (FLNB)
• Bent bone dysplasia syndrome (FGFR2)
• Boomerang dysplasia (FLNB)
• Bruck syndrome 1 (FKBP10)
• Bruck syndrome 2 (PLOD2)
• Carey-Fineman-Ziter syndrome (MYMK)
• Carney complex variant (MYH8)
• Cerebrooculofacioskeletal syndrome 1 (ERCC6)
• Cerebrooculofacioskeletal syndrome 3 (ERCC5)
• Chondrodysplasia punctata, XLD (EBP)
• Congenital arthrogryposis with anterior horn cell disease (GLE1)
• Congenital contractures of the limbs + face, hypotonia, developmental delay (NALCN)
• Congenital disorder of glycosylation, type Iu (DPM2)
• Contractural arachnodactyly, congenita (FBN2)
• Contractures, pterygia + spondylocarpotarsal fusion syndrome 1A + 1B (MYH3)
• Distal arthrogryposis [panelapp] (ADAMTS15)
• Distal arthrogryposis multiplex congenita (TNNI2)
• Distal arthrogryposis type 1 (TNNT3)
• Distal myopathy with posterior leg + anterior hand involvement [MONDO:0013550] (FLNC)
• Ehlers-Danlos syndrome, kyphoscoliotic type, 1 (PLOD1)
• Ehlers-Danlos syndrome, musculocontractural type 1 (CHST14)
• Escobar syndrome [multiple pterygium syndrome, nonlethal type] (CHRNG)
• Fetal akinesia deformation sequence 1 (MUSK)
• Fetal akinesia deformation sequence 2 (RAPSN)
• Fetal akinesia deformation sequence 3 (DOK7)
• Fetal akinesia deformation sequence 4 (NUP88)
• Fetal akinesia, respiratory insuff., microcephaly, polymicrogyria, dysm. face (ATP1A2)
• Frontometaphyseal dysplasia 1 (FLNA)
• Gaucher disease, perinatal lethal (GBA)
• Glycine encephalopathy with normal serum glycine (SLC6A9)
• Glycogen storage disease IV (GBE1)
• Hardikar syndrome (MED12)
• Histiocytosis-lymphadenopathy plus syndrome (SLC29A3)
• Hyperekplexia 4 (ATAD1)
• Lethal congenital contracture syndrome 1 (GLE1)
• Lethal congenital contracture syndrome 10 (NEK9
• Lethal congenital contracture syndrome 11 (GLDN)
• Lethal congenital contracture syndrome 2 (ERBB3)
• Lethal congenital contracture syndrome 3 (PI5K1C)
• Lethal congenital contracture syndrome 4 (MYBPC1)
• Lethal congenital contracture syndrome 5 (DNM2)
• Lethal congenital contracture syndrome 6 (ZBTB42)
• Lethal congenital contracture syndrome 7 (CNTNAP1)
• Lethal congenital contracture syndrome 8 (ADCY6)
• Lethal congenital contracture syndrome 9 (ADGRG6)
• Lujan-Fryns syndrome (MED12)
• Marden-Walker syndrome (PIEZO2)
• Multiple pterygium syndrome, lethal type (CHRNA1, CHRND, CHRNG)
• Muscular dystrophy, AR, rigid spine, distal joint contractures (TOR1AIP1)
• Muscular dystrophy, congenital, Davignon-Chauveau type (TRIP4)
• Myasthenic syndrome, congenital, 21, presynaptic (SLC18A3)
• Myopathy, congenital, Compton-North (CNTN1)
• Nail-patella syndrome (LMX1B)
• Neurodegeneration with brain iron accumulation 6 (COASY)
• Neurodevelopmental disorder with microcephaly, arthrogryposis + structural brain anomalies (MYMK)
• Ohdo syndrome, XL (MED12)
• Opitz-Kaveggia syndrome (MED12)
• Otopalatodigital syndrome, type I + II (FLNA)
• Pontocerebellar hypoplasia, type 12 (COASY)
• Popliteal pterygium syndrome, Bartsocas-Papas type (RIPK4)
• Raine syndrome [osteosclerotic bone dysplasia, lethal] (FAM29C)
• Restrictive dermopathy, lethal (ZMPSTE24)
• Schaaf-Yang [Prader-Willi like] syndrome (MAGEL2)
• Spinal muscular atrophy with congenital bone fractures 1 (TRIP4)
• Spinal muscular atrophy with congenital bone fractures 2 (ASCC1)
• Spinal muscular atrophy, XL 2, infantile [Arthrogryposis multiplex congenita, distal, XL] (UBA1)
• Spinal muscular atrophy-1, -2, -3, -4 (SMN1)
• Terminal osseous dysplasia (FLNA)
• Thanatophoric dysplasia, type I (FGFR3)
• Thanatophoric dysplasia, type II (FGFR3)
• Van den Ende-Gupta syndrome [Blepharophimosis, arachnodactyly, cong. contractures] (SCARF2)
• Ventriculomegaly + arthrogryposis (KIDINS220)
• Weill-Marchesani [Spherophakia-brachymorpha] syndrome 1, AR (ADAMTS10)
• Wieacker-Wolff syndrome (ZC4H2)
• Wieacker-Wolff syndrome, female-restricted (ZC4H2)