PMC Comprehensive Short Stature Syndrome Panel

Associated Conditions
- Achondrogenesis type 1B
- Achondrogenesis type 2
- Achondrogenesis, type IA
- Achondroplasia
- Acrocallosal syndrome
- Acrodysostosis
- Acrodysostosis 2, with or without hormone resistance
- Acrofacial dysostosis 1, Nager
- Acrofacial dysostosis, Cincinnati type
- Acromelic frontonasal dysostosis
- Acromesomelic dysplasia
- Acromesomelic dysplasia type Maroteaux
- Acromicric dysplasia
- Acro-renal-ocular syndrome
- Adams-Oliver syndrome
- Adrenoleukodystrophy, neonatal
- ADULT syndrome
- Aicardi-Goutieres syndrome 7
- Albright hereditary osteodystrophy
- Al-Gazali-Bakalinova syndrome
- Allelic Digital clubbing, isolated congenital
- Amelogenesis imperfecta (Enamel-renal syndrome)
- Amyotrophic lateral sclerosis
- Anauxetic dysplasia 2
- Andersen syndrome
- Aneurysms-osteoarthritis syndrome
- Ankyloblepharon-ectodermal defects-cleft lip/palate
- Antley-Bixler syndrome
- Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis
- Aortic valve disease
- Apert syndrome, , , ,
- Aplasia of lacrimal and salivary glands
- Aplastic anemia
- Arrhythmogenic right ventricular dysplasia
- Arterial calcification
- Arthrogryposis
- Arthrogryposis, renal dysfunction, and cholestasis 2
- Arthropathy, progressive pseudorheumatoid, of childhood
- Asphyxiating thoracic dysplasia (ATD; Jeune)
- Atelosteogenesis type 1
- Atelosteogenesis type 2
- Atelosteogenesis type 3
- Atrial fibrillation
- Auriculocondylar syndrome 1
- Auriculocondylar syndrome 2
- Auriculocondylar Syndrome 3
- Avascular necrosis of femoral head
- Bardet-Biedl syndrome
- Beare-Stevenson cutis gyrata syndrome
- Beckwith-Wiedemann syndrome
- Bent bone dysplasia
- Blomstrand dysplasia
- Bone marrow failure syndrome 3
- Boomerang dysplasia
- Brachydactyly
- Brachydactyly C/Symphalangism-like pheno
- Brachydactyly type A2
- Brachydactyly type B
- Brachydactyly type B2
- Brachydactyly type C
- Brachydactyly type D
- Brachydactyly with anonychia (Cooks syndrome)
- Brachydactyly, type E2
- Brachydactyly-intellectual disability syndrome
- Brachydactyly-syndactyly syndrome
- Brachyolmia (autosomal dominant type)
- Brachyolmia 4 with mild epiphyseal and metaphyseal changes
- Bruck syndrome
- Bruck syndrome 1
- Calcium pyrophosphate deposition disease (familial chondrocalcinosis type 2)
- Campomelic dysplasia, 46,XY sex reversal
- Camptodactyly, tall stature, and hearing loss (CATSHL) syndrome
- Cardiac valvular dysplasia, X-linked
- Cardiofaciocutaneous syndrome
- Carney complex
- Carpenter syndrome 1
- Carpenter syndrome 2
- Cartilage-hair hypoplasia
- Catel-Manzke syndrome
- Cerebral, Ocular, Dental, Auricular, and Skeletal anomalies (CODAS) syndrome
- Charcot-Marie-Tooth disease
- Cherubism
- Chondrodysplasia
- Chondrodysplasia punctata X-linked recessive, brachytelephalangic type (CDPX1)
- CK syndrome
- CLOVES
- Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly
- COACH syndrome
- Coffin-Siris syndrome
- Coffin-Siris syndrome 3
- Cold-induced sweating syndrome, type 1
- Cole Carpenter syndrome 1
- Cole-Carpenter syndrome 2
- Coloboma, ocular
- Combined oxidative phosphorylation deficiency 6
- Cone-Rod dystrophy, autosomal recessive
- Congenital contractural arachnodactyly (Beals syndrome)
- Congenital disorder of glycosylation
- Congenital heart defects, multiple types, 2
- Congenital heart defects, nonsyndromic
- Congenital hemidysplasia with ichthyosiform erythroderma and limb defects (CHILD syndrome)
- Congenital myopathy with excess of muscle spindles
- Cornelia de Lange syndrome
- Cornelia de Lange syndrome 4
- Costello syndrome
- Cowchock syndrome
- Cowden syndrome
- Craniodiaphyseal dysplasia, autosomal dominant
- Cranioectodermal dysplasia (Levin-Sensenbrenner) type 1
- Cranioectodermal dysplasia (Levin-Sensenbrenner) type 2
- Cranioectodermal dysplasia 3
- Craniofacial-deafness-hand syndrome
- Craniofacial-skeletal-dermatological dysplasia
- Craniofrontonasal dysplasia
- Craniometaphyseal dysplasia autosomal dominant type
- Craniosynostosis
- Craniosynostosis 4, Chitayat syndrome
- Craniosynostosis Boston type
- Crisponi syndrome
- Crouzon syndrome
- Crouzon syndrome with acanthosis nigricans
- Cutaneous telangiectasia and cancer syndrome
- Cutis laxa
- Cutis laxa AR type 2B
- D-2-hydroxyglutaric aciduria 2
- De la Chapelle dysplasia
- Deafness
- Demirhan
- Dental anomalies and short stature
- Desbuquois dysplasia
- Desbuquois dysplasia 2
- Diaphyseal dysplasia Camurati-Engelmann
- Dilated cardiomyopathy (DCM)
- Disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency
- Duane-radial ray/Okihiro syndrome
- Dyggve-Melchior-Clausen dysplasia
- Dyssegmental dysplasia Rolland-Desbuquis type
- Dyssegmental dysplasia Silverman-Handmaker type
- Early-onset dementia without bone cysts
- Ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome
- Ectrodactyly
- Ehlers-Danlos syndrome
- Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss
- Ehlers-Danlos syndrome, cardiac valvular form
- Ehlers-Danlos syndrome, musculocontractural
- Ehlers-Danlos syndrome, musculocontractural type 2
- Eiken dysplasia
- Emery-Dreiffus muscular dystrophy
- Endocrine-cerebroosteodysplasia
- Epilepsy, juvenile myoclonic
- Epiphyseal chondrodysplasia, Miura
- Epiphyseal dysplasia, with myopia and deafness
- Esophageal atresia, syndromic
- Even-Plus syndrome
- Exudative vitreoretinopathy
- Failure of tooth eruption
- Familial Digital arthropathy with brachydactyly
- Familial expansile osteolysis
- Familial Hypocalciuric hypercalcemia with transient
- Fanconi anemia
- Feingold syndrome
- Fibromatosis, juveline hyaline
- Fibular hypoplasia and complex brachydactyly
- Filippi syndrome
- Finnish (Salla disease)
- Frontometaphyseal dysplasia
- Frontometaphyseal dysplasia 2
- Frontonasal dysplasia 3
- Frontonasal dysplasia type 1
- Frontonasal dysplasia type 2, Parietal foramina
- Frontotemporal dementia and/or amyotrophic lateral sclerosis 3
- Fuhrmann syndrome
- Geleophysic dysplasia 2
- Geleophysic dysplasia 3
- Geroderma osteodysplasticum
- Ghosal hematodiaphyseal syndrome
- Glaucoma, primary congenital
- Glomerulopathy with fibronectin deposits 2
- GM1-gangliosidosis, Mucopolysaccharidosis (Morquio syndrome)
- Gnathodiaphyseal dysplasia, LGMD2L and distal MMD3 muscular dystrophies
- Gollop-Wolfgang
- Grebe dysplasia
- Greenberg/HEM skeletal dysplasia
- Grieg cephalopolysndactyly syndrome
- Growth restriction, severe, with distinctive facies
- Growth retardation, developmental delay, and facial dysmorphism
- Guttmacher syndrome
- Hand-foot-genital syndrome
- Hand-foot-uterus syndrome
- Hartsfield syndrome
- Heart-hand syndrome
- Hereditary hemorrhagic telangiectasia
- Hereditary motor and sensory neuropathy
- Hip dysplasia, Beukes type
- Histiocytosis-lymphadenopathy plus syndrome
- Holoprosencephaly
- Hunter-Thompson
- Hyalinosis, infantile systemic
- Hydrolethalus syndrome
- Hydrops-ectopic calcification-moth-eaten skeletal dysplasia
- Hydroxykynureninuria
- Hyperostosis, endosteal
- Hyperparathyroidism
- Hyperphosphatasia with mental retardation syndrome 1
- Hypertension with brachydactyly
- Hypertrophic osteoarthropathy
- Hypocalcemia
- Hypochondroplasia
- Hypogonadotropic hypogonadism
- Hypoparathyroidism, familial isolated, Hyperparathyroidism 4
- Hypophosphatasia perinatal lethal, infantile, juvenile and adult forms
- Hypophosphatemia, hyperphosphaturia, dental anomalies, intracerebral calcifications and osteosclerosis (Raine syndrome)
- Hypophosphatemic rickets
- Hypophosphatemic rickets with hypercalciuria
- Hypotrichosis, congenital, with juvenile macular dystrophy
- IFAP syndrome
- Immunodeficiency 23
- Immunoskeletal dysplasia with neurodevelopmental abnormalities (ISDNA)
- Infantile liver failure syndrome 2
- Infantile sialic acid storage disorder
- Intellectual developmental disorder
- Intestinal pseudoobstruction, neuronal, X-linked/Congenital short bowel syndrome
- Jackson-Weiss syndrome
- Jeune asphyxiating thoracic dystrophy
- Joint laxity, short stature, and myopia (JLSM)
- Joubert syndrome
- Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
- KBG syndrome
- Kenny-Caffey syndrome, type 2
- Keratoconus, Osteogenesis imperfecta, type XVII
- Keratosis follicularis spinulosa decalvans
- Klippel-Feil syndrome 1, autosomal dominant
- Klippel-Feil syndrome 2
- Klippel-Feil syndrome 3, autosomal dominant
- Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism
- Lacrimoauriculodentodigital syndrome
- Langer mesomelic dysplasia
- Larsen syndrome (dominant)
- Leber congenital amaurosis
- Leber congenital amaurosis 17
- Lenz-Majewski hyperostotic dwarfism
- Leri-Weill dyschondrosteosis
- Leukocyte adhesion deficiency
- Leukodystrophy, hypomyelinating
- Leukoencephalopathy, diffuse hereditary, with spheroids
- Liebenberg syndrome
- Limb-girdle muscular dystrophy
- Limb-mammary syndrome
- Lipodystrophy (Dunnigan)
- Loeys-Dietz syndrome
- Loeys-Dietz syndrome (Reinhoff syndrome)
- Long QT syndrome
- LRP5 primary osteoporosis
- Luscan-Lumish syndrome
- Majeed syndrome
- Male EBP disorder with neurologic defects (MEND)
- Malouf syndrome
- Mandibuloacral dysplasia type A
- Mandibuloacral dysplasia with B lipodystrophy
- Mandibulofacial dysostosis with alopecia
- Mandibulofacial dysostosis with microcephaly
- Marfan syndrome
- Marshall syndrome
- Marshall-Smithsyndrome
- MASS syndrome
- McCune-Albright syndrome
- Meckel syndrome
- Meier-Gorlin syndrome (Ear-patella-short stature syndrome)
- Meier-Gorlin syndrome 6
- Meier-Gorlin syndrome 7
- Melnick-Needles syndrome
- Mental retardation, autosomal dominant 29
- Metaphyseal anadysplasia 1
- Metaphyseal chondrodysplasia Jansen type
- Metaphyseal chondrodysplasia, Schmid
- Metaphyseal dysplasia with maxillary hypoplasia
- Metaphyseal dysplasia without hypotrichosis
- Microcephalic osteodysplastic primordial dwarfism
- Microcephalic osteodysplastic primordial dwarfism type 1
- Microcephalic osteodysplastic primordial dwarfism type 3
- Microcephaly
- Microcephaly 13, primary, autosomal recessive
- Microcephaly, short stature, and limb abnormalities (MISSLA)
- Microcephaly-capillary malformation syndrome
- Microcephaly-Micromelia syndrome
- Microphthalmia with coloboma
- Microphthalmia, isolated 4
- Microphthalmia, isolated 7
- Microphthalmia, isolated, with coloboma 6
- Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma
- Mucolipidosis
- Mucopolysaccharidosis
- Mucopolysaccharidosis (Maroteaux-Lamy)
- Mucopolysaccharidosis (Morquio syndrome)
- Mucopolysaccharidosis (Sanfilippo syndrome)
- Muenke syndrome
- Multicentric carpotarsal osteolysis
- Multiple cartilagenious exostoses 1
- Multiple cartilagenious exostoses 2
- Multiple epihyseal dysplasia type 3 (EDM3)
- Multiple epiphyseal dysplasia type 2 (EDM2)
- Multiple epiphyseal dysplasia type 5 (EDM5)
- Multiple epiphyseal dysplasia type 6 (EDM6)
- Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects
- Multiple synostoses syndrome 3
- Multiple synostosis syndrome
- Muscular dystrophy, congenital, LMNA-related
- Myasthenic syndrome, congenital
- Myhre dysplasia
- Myopathy, distal, with rimmed vacuoles
- Myxoma, intracardiac
- Nephrolithiasis, I
- Nephronophthisis
- Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset
- Neurofibromatosis
- Neurofibromatosis-Noonan syndrome
- Noonan syndrome
- Oculodentodigital dysplasia mild type, Oculodentodigital dysplasia severe type
- Odontohypophosphatasia
- Ohdo syndrome, SBBYS variant
- Omodysplasia 1
- Orofacial cleft
- Orofaciodigital syndrome
- Orofaciodigital syndrome (Mohr-Majewski syndrome)
- Orofaciodigital syndrome XIV
- Orofaciodigital syndrome XV
- Osteochondritis dissecans, short stature, and early-onset osteoarthritis
- Osteodysplasty Melnick-Needles
- Osteofibrous dysplasia, susceptibility to
- Osteogenesis imperfecta type 1
- Osteogenesis imperfecta type 2
- Osteogenesis imperfecta type 3
- Osteogenesis imperfecta type 4
- Osteogenesis imperfecta type 5
- Osteogenesis imperfecta, type VI
- Osteogenesis imperfecta, type XI
- Osteogenesis imperfecta, type XII
- Osteogenesis imperfecta, type XIV
- Osteogenesis imperfecta, type XV
- Osteogenesis imperfecta, type XVI
- Osteoglophonic Dwarfism - Craniostenosis
- Osteomyelitis, sterile multifocal, with periostitis and pustulosis
- Osteopetrosis late-onset form type 1
- Osteopetrosis, autosomal recessive 2
- Osteopetrosis, autosomal recessive 5
- Osteopetrosis, autosomal recessive 6
- Osteopetrosis, autosomal recessive 8
- Osteopetrosis, severe neonatal or infantile forms (OPTB1)
- Osteopetrosis, with renal tubular acidosis
- Osteoporosis and osteoporotic fractures
- Osteoporosis-pseudoglioma syndrome
- Osteoprosis, autosomal dominant
- Osteosclerosis
- Otopalatodigital syndrome type 1
- Otopalatodigital syndrome type 2
- Paget disease of bone, juvenile
- Pallister-Hall syndrome
- Palmoplantar keratoderma, mutilating, with periorificial keratotic plaques
- Parastremmatic dwarfism
- Parietal foramina
- Parietal foramina with cleidocranial dysplasia
- Pelger-Huet anomaly
- Periventricular nodular heterotopia 1
- Peroxisome biogenesis disorder
- Pfeiffer syndrome
- Pigmented nodular adrenocortical disease
- Platyspondylic dysplasia Torrance type, Hypochondrogenesis, Spondyloepiphyseal dysplasia congenital (SEDC)
- Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy
- Polymicrogyria
- Polyposis, juvenile intestinal
- Postaxial acrofacial dysostosis (Miller syndrome)
- Preaxial polydactyly type 3
- Preaxial polydactyly type 4
- Preaxial polydactyly type A
- Progeria Hutchinson-Gilford type
- Progressive encephalopathy with amyotrophy and optic atrophy (PEAMO)
- Progressive osseous heteroplasia
- Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis
- Proteus syndrome
- Pseudohypoparathyroidism
- Pulmonary arterial hypertension (PAH)
- Pyle disease
- Question-mark ears, isolated
- Radioulnar synostosis with amegakaryocytic thrombocytopenia
- Radioulnar synostosis with amegakaryocytic thrombocytopenia 2
- Rapp-Hodgkin syndrome
- Recessive Multiple Epiphyseal dysplasia
- Refsum disease
- Renal cell carcinoma, papillary
- Restrictive dermopathy, lethal
- Retinal degeneration in ciliopathy, modifier
- Retinal dystrophy with or without macular staphyloma (RDMS)
- Retinitis pigmentosa
- Reynolds syndrome
- Rhabdoid tumor predisposition syndrome
- Rhegmatogenous retinal detachment
- Rhizomelic CDP type 1
- Rhizomelic chondrodysplasia punctata type 3
- Rhizomelic chondrodysplasia punctata, rhizomelic
- Rhizomelic short stature with microcephaly, micrognathia, and developmental delay (SRMMD)
- Richieri-Costa-Pereira Syndrome
- Robinow syndrome recessive type
- Robinow syndrome, autosomal dominant 3
- Robinow-Sorauf syndrome
- Rubinstein-Taybi syndrome
- SADDAN
- Saethre-Chotzen syndrome
- SC phocomelia syndrome, Roberts syndrome
- Schinzel-Giedion midface retraction syndrome
- Schwannomatosis
- Schwartz-Jampel syndrome
- Schwartz-Jampel type 2 syndrome
- Sclerosteosis
- Sclerosteosis 1
- SED with metatarsal shortening
- SED, Wolcott-Rallison type
- Seizures, scoliosis, and macrocephaly syndrome
- SEMD PAPPS2 type
- Senior-Loken syndrome
- Senior-Loken syndrome 9
- Sensenbrenner syndrome
- Severe spondylometaphyseal dysplasia
- Short QT syndrome
- Short -rib thoracic dysplasia with or without polydactyly
- Short -rib thoracic dysplasia with or without polydactyly type 1
- Short -rib thoracic dysplasia with or without polydactyly type 3
- Short rib thoracic dysplasia with polydactyly
- Short rib-polydactyly syndrome type 5
- Short stature
- Short stature with nonspecific skeletal abnormalities
- Short Stature, Auditory-Canal Atresia, Mandibular Hypoplasia, and Skeletal Abnormalities (SAMS)
- Short stature, microcephaly, and endocrine dysfunction
- Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis (SOFT syndrome)
- Short stature, optic nerve atrophy, and Pelger-Huet anomaly (SOPH syndrome)
- Short-rib thoracic dysplasia
- Short-rib thoracic dysplasia 13 with or without polydactyly
- Short-rib thoracic dysplasia 15 with polydactyly
- Short-rib thoracic dysplasia 16 with or without polydactyly
- Short-rib thoracic dysplasia 17 with or without polydactyly
- Short-rib thoracic dysplasia 8 with or without polydactyly
- Shprintzen-Goldberg syndrome
- Sialuria
- Simpson-Golabi-Behmel syndrom
- Singleton-Merten syndrome
- Skeletal dysplasia and disorders
- Slovenian
- Small patella syndrome
- Smith-McCort dysplasia 2
- Sotos syndrome
- Sotos syndrome 2
- Spinal muscular atrophy
- Split hand-foot malformation with long bone deficiency (SHFLD3)
- Split-hand/foot malformation
- Split-hand/foot malformation with sensorineural hearing loss
- Spondylo-carpal-tarsal dyspasia
- Spondylocostal dysostosis 2, autosomal recessive
- Spondylocostal dysostosis 4, autosomal recessive
- Spondylocostal dysostosis 5
- Spondylocostal dysostosis, autosomal recessive 3
- Spondylocostal dysostosis, autosomal recessive 6
- Spondylodysplastic Ehlers-Danlos syndrome
- Spondyloenchondrodysplasia with immune dysregulation
- Spondyloepimetaphyseal dysplasia (SEMD) Strudwick type
- Spondyloepimetaphyseal dysplasia Genevieve type
- Spondyloepimetaphyseal dysplasia Matrilin type
- Spondyloepimetaphyseal dysplasia with joint laxity
- Spondyloepimetaphyseal dysplasia with joint laxity, type 2
- Spondyloepimetaphyseal dysplasia, aggrecan type
- Spondyloepimetaphyseal dysplasia, X-linked
- Spondyloepiphyseal dysplasia Maroteaux type
- Spondyloepiphyseal dysplasia tarda with progressive arthropathy
- Spondyloepiphyseal dysplasia with congenital joint dislocations (recessive Larsen syndrome)
- Spondyloepiphyseal dysplasia, Kimberley type
- Spondylometaepiphyseal dysplasia, short limb-hand type
- Spondylometaphyseal dysplasia Kozlowski type
- Spondylometaphyseal dysplasia, axial (SMDAX)
- Spondyloperipheral dysplasia, Mild SED with premature onset arthrosis
- SRPS type 2 (Majewski)
- Stapes ankylosis with broad thumb and toes (Teunissen-Cremers syndrome)
- Stickler syndrome recessive type
- Stickler syndrome type 1
- Stickler syndrome type 2
- Stickler syndrome type 3 (non-ocular)
- Stickler syndrome, type IV
- Stuve-Wiedemann dysplasia
- Symphalangism, proximal
- Syndactyly
- Syndactyly Malik-Percin type, mesoaxial synostotic, with phalangeal reduction
- Syndactyly type 3
- Syndactyly type Lueken
- Synopolydactyly
- Synopolydactyly with clefting
- Tarsal-carpal coalition syndrome
- Tatton-Brown-Rahman syndrome
- Temtamy preaxial brachydactyly syndrome
- Terminal osseous dysplasia with pigmentary defects
- Thanatophoric dysplasia type 1
- Thanatophoric dysplasia type 2
- Thrombocythemia 1
- Thrombocytopenia - absent radius
- Tooth agenesis, selective, 8
- Torg-Winchester syndrome
- Townes-Brocks syndrome 1
- Treacher Collins syndrome
- Trichodontoosseous syndrome
- Trichorhinophalangeal syndrome type 1
- Trichorhinophalangeal syndrome type 3
- Trigonocephaly
- Tumoral calcinosis, hyperphosphatemic
- Ulna and fibula, absence of, with severe limb deficiency (Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome)
- van Buchem disease
- Vertebral, cardiac, renal, and limb defects syndrome 1
- Vertebral, cardiac, renal, and limb defects syndrome 2
- Vitamin D hydroxylation deficient rickets, type 1B
- Vitamin D-dependent rickets
- Waardenburg syndrome, type 1
- Waardenburg syndrome, type 3
- Watson syndrome
- Weaver syndrome
- Weill-Marchesani syndrome
- Weill-Marchesani-like syndrome
- Weissenbacher-Zweymuller syndrome
- Weyers acrofacial dysostosis
- Wrinkly skin syndrome
- Yakut short stature syndrome
- Yunis-Varon syndrome
- Zellweger syndrome

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Tagged Genes