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Acid-Labile Subunit Deficiency
acrocapitofemoral dysplasia
acrocardiofacial syndrome
Acrocephalopolydactylous Dysplasia
acrofacial dysostosis Rodriguez type
acrofacial dysostosis, Patagonia type
Acromegaloid Features, Overgrowth, Cleft Palate, and Hernia
Adrenocortical Hypofunction, Chronic Primary Congenital
adrenocorticotropic hormone deficiency
advanced sleep phase syndrome 3
age related macular degeneration 8
Agonadism, XY, with Mental Retardation, Short Stature, Retarded Bone Age, and Multiple Extragenital Malformations
Al Gazali Khidr Prem Chandran Syndrome
Alpha-2-Deficient Collagen Disease
Anonychia-Onychodystrophy with Hypoplasia or Absence of Distal Phalanges
Aphalangia Syndactyly Microcephaly
atrial heart septal defect 3
atrial heart septal defect 4
autoimmune lymphoproliferative syndrome +
Bainbridge-Ropers syndrome
Bellini Chiumello Rimoldi Syndrome
Bhaskar Jagannathan Syndrome
Bifid Femur with Monodactylous Ectrodactyly
Blepharophimosis with Ptosis, Syndactyly, and Short Stature
Borjeson-Forssman-Lehmann syndrome
Boudhina Yedes Khiari syndrome
Brachydactyly Type E, with Atrial Septal Defect, Type II
brachydactyly type E2 A characterized byautosomal dominant inheritance of short stature, tooth abnormalities, and short metacarpals and metatarsals that has_material_basis_in heterozygous mutation in the PTHLH gene on chromosome 12p. (DO)
Brachyphalangy, Polydactyly, and Tibial Aplasia/Hypoplasia
Braddock Carey Syndrome +
Camptodactyly Joint Contractures and Facial Skeletal Dysplasia
Camptodactyly Syndrome Guadalajara Type +
Camptodactyly Vertebral Fusion
Camptodactyly, Fibrous Tissue Hyperplasia, and Skeletal Dysplasia
camptodactyly-arthropathy-coxa vara-pericarditis syndrome
Camptodactyly-Ichthyosis Syndrome
camptodactyly-tall stature-scoliosis-hearing loss syndrome
Cantalamessa Baldini Ambrosi Syndrome
Cantu Sanchez-Corona Fragoso Syndrome
Carnevale Hernandez Castillo Syndrome
Carpal Synostosis with Dysplastic Elbow Joints and Brachydactyly
cataract 26 multiple types
Cataracts, Ataxia, Short Stature, and Mental Retardation
Cenani-Lenz syndactyly syndrome
Chitayat Meunier Hodgkinson Syndrome
Chitty Hall Baraitser Syndrome
chromosome 15q26-qter deletion syndrome
chromosome 17q11.2 deletion syndrome
Chromosome 18 Pericentric Inversion
Cleft Palate, Deafness, and Oligodontia
cold-induced sweating syndrome +
Complex Camptosynpolydactyly
complex cortical dysplasia with other brain malformations 1
complex cortical dysplasia with other brain malformations 2
complex cortical dysplasia with other brain malformations 3
complex cortical dysplasia with other brain malformations 4
complex cortical dysplasia with other brain malformations 5
complex cortical dysplasia with other brain malformations 6
Congenital Hepatic Fibrosis
Congenital Pain Insensitivity +
Congenital Progeroid Syndrome, Petty Type
congenital vertical talus
Cranioacrofacial Syndrome
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, and Growth and Developmental Retardation
Craniosynostosis, Adelaide Type
Crumpled Helices and Small Mouth
Curatolo Cilio Pessagno Syndrome
Daish Hardman Lamont Syndrome
Daneman Davy Mancer Syndrome
Deafness, Congenital Onychodystrophy, Recessive Form
desquamative interstitial pneumonia
diphthamide deficiency syndrome 1
distal arthrogryposis type 1 +
distal arthrogryposis type 3
Distal Renal Tubular Acidosis, with Nephrocalcinosis, Short Stature, Mental Retardation, and Distinctive Facies
Dwarfism Stiff Joint Ocular Abnormalities
Dyschondrosteosis and Nephritis
ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome
ECTODERMAL DYSPLASIA/SHORT STATURE SYNDROME
Ectrodactyly and Ectodermal Dysplasia without Cleft Lip/Palate
ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 1
ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3
Ectrodactyly-Cleft Palate Syndrome
Epithelial Squamous Dysplasia, Keratinizing Desquamative, of Urinary Tract
Exostoses with Anetodermia and Brachydactyly Type E
Extensor Tendons of Fingers, Anomalous Insertion of
Facial Dysmorphism, Cleft Palate, Hearing Loss, and Camptodactyly
Facial Dysmorphism, Immunodeficiency, Livedo, and Short Stature
Fallot Complex with Severe Mental and Growth Retardation
Familial Dysalbuminemic Hyperthyroxinemia
Familial Hemophagocytic Lymphohistiocytoses +
familial hypertrophic cardiomyopathy +
Familial Lipochrome Histiocytosis
Familial Mixed Cryoglobulinemia
Familial Temporal Epilepsy +
Fetal Growth Retardation +
Fibular Aplasia, Tibial Campomelia, and Oligosyndactyly Syndrome
Forsythe-Wakeling Syndrome
Fried Goldberg Mundel Syndrome
Frints De Smet Fabry Fryns Syndrome
Frontootopalatodigital Osteodysplasia
frontotemporal dementia and/or amyotrophic lateral sclerosis 3
frontotemporal dementia and/or amyotrophic lateral sclerosis 4
Game Friedman Paradice Syndrome
Gay Feinmesser Cohen Syndrome
Generalized Lipodystrophy with Mental Retardation, Deafness, Short Stature, and Slender Bones
Gingival Fibromatosis with Hypertrichosis and Mental Retardation
glycogen storage disease IX +
Gomez Lopez Hernandez Syndrome
Goniodysgenesis-Mental Retardation-Short Stature Syndrome
Growth and Developmental Retardation, Ocular Ptosis, Cardiac Defect, and Anal Atresia
Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, and Cerebellar Atrophy
Growth Mental Deficiency Syndrome of Myhre
GROWTH RESTRICTION, HYPOPLASTIC KIDNEYS, ALOPECIA, AND DISTINCTIVE FACIES
GROWTH RETARDATION, INTELLECTUAL DEVELOPMENTAL DISORDER, HYPOTONIA, AND HEPATOPATHY
Growth Retardation, Small and Puffy Hands and Feet, and Eczema
hand-foot-genital syndrome
Heart-Hand Syndrome, Slovenian Type
Heme Oxygenase 1 Deficiency
Hereditary Bilateral Parotidomegaly
Hereditary Eye Diseases +
Hereditary Neoplastic Syndromes +
hereditary spastic paraplegia 9A
Hersh Podruch Weisskopf Syndrome
Heyn-Sproul-Jackson Syndrome
Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip/Palate
Hutterite Cerebroosteonephrodysplasia Syndrome
Hypergonadotropic Gonadal Dysgenesis XX Type, Short Stature, and Recurrent Metabolic Acidosis
hypoparathyroidism-retardation-dysmorphism syndrome
Hypoplastic Thumb with Choroid Coloboma, Poorly Developed Antihelix, and Deafness
Infra-Auricular Cutaneous Creases with Tall Stature and Advanced Bone Age
inherited metabolic disorder +
Insulin-Like Growth Factor I Deficiency
Insulin-Like Growth Factor I, Resistance to, due to Increased Binding Protein
INTELLECTUAL DEVELOPMENTAL DISORDER WITH POOR GROWTH AND WITH OR WITHOUT SEIZURES OR ATAXIA
Isolated Prolactin Deficiency
Johanson-Blizzard syndrome
Kozlowski Rafinski Klicharska Syndrome
Kuster Majewski Hammerstein Syndrome
Ladda Zonana Ramer Syndrome
Langer Mesomelic Dysplasia
Larsen-like syndrome B3GAT3 type
Laryngotracheal Stenosis, Progressive, with Short Stature and Arthropathy
Leri-Weill dyschondrosteosis
Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis
Macrosomia Adiposa Congenita
Malocclusion and Short Stature
Mammary-Digital-Nail Syndrome
Mental and Growth Retardation with Amblyopia
Mental Retardation Mietens Weber Type
Mental Retardation with Optic Atrophy, Facial Dysmorphism, Microcephaly, and Short Stature
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, and Facial Dysmorphism
Metaphyseal Acroscyphodysplasia
Microcephaly with Cervical Spine Fusion Anomalies
Microcephaly with Mental Retardation and Digital Anomalies
microcephaly, growth deficiency, seizures, and brain malformations
Microcephaly, Growth Restriction, and Increased Sister Chromatid Exchange +
Microcephaly, Short Stature, and Impaired Glucose Metabolism +
Microcephaly, Short Stature, and Polymicrogyria with or without Seizures
Microdontia Hypodontia Short Stature
Milner Khallouf Gibson Syndrome
Mitochondrial Myopathy with Lactic Acidosis
Mollica-Pavone-Antener Syndrome
Mononen-Karnes-Senac syndrome
Monophalangy of Great Toe
Morillo-Cucci Passarge Syndrome
Mosaic Variegated Aneuploidy Syndrome 5
Mosaic Variegated Aneuploidy Syndrome 6
Muller Barth Menger Syndrome
Multiform Ventricular Extrasystoles with Short Stature, Hyperpigmentation and Microcephaly
Myelodysplasia, Immunodeficiency, Facial Dysmorphism, Short Stature, and Psychomotor Delay
Neonatal Zinc Deficiency due to Low Breast Milk Zinc
Nervous System Heredodegenerative Disorders +
neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies
Neurodevelopmental Disorder with Growth Retardation, Dysmorphic Facies, and Corpus Callosum Abnormalities
neurodevelopmental disorder with poor growth and behavioral abnormalities
NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH AND SKELETAL ANOMALIES
NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH, LARGE EARS, AND DYSMORPHIC FACIES
neurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing loss
neurodevelopmental disorder with spasticity and poor growth
Neurofaciodigitorenal Syndrome
Nicolaides-Baraitser syndrome
Nijmegen Breakage Syndrome-Like Disorder
Nonimmune Chronic Idiopathic Neutropenia, Adult
oculodentodigital dysplasia +
Odontotrichoungual-Digital-Palmar Syndrome
Oroacral Syndrome, Verloes-Koulischer Type
Osteolysis Syndrome, Recessive
otopalatodigital syndrome spectrum disorder +
Partial Aphalangia with Syndactyly and Duplication of Metatarsal IV
Partington Anderson Syndrome
Patent Ductus Arteriosus and Bicuspid Aortic Valve with Hand Anomalies
Pectus Excavatum, Macrocephaly, Short Stature, Dysplastic Nails
Petty Laxova Wiedemann Syndrome
Pfeiffer Kapferer Syndrome
Pfeiffer Palm Teller Syndrome
Pfeiffer Tietze Welte Syndrome
Pili Torti, Developmental Delay, Neurological Abnormalities
Postaxial Polydactyly, with Dental and Vertebral Anomalies
Preaxial Polydactyly II +
Premature Aging, Okamoto Type
primary hypertrophic osteoarthropathy +
Progeria Short Stature Pigmented Nevi
Progeroid Facial Appearance with Hand Anomalies
progressive familial intrahepatic cholestasis +
Pseudotrisomy 13 Syndrome
Radial Defect Robin Sequence
Radio-Ulnar Synostosis Type 1
Radio-Ulnar Synostosis Type 2
Radioulnar Synostosis Retinal Pigment Abnormalities
Rajab Interstitial Lung Disease with Brain Calcifications 1
Ray Peterson Scott Syndrome
Reardon Wilson Cavanagh Syndrome
Retinal Dystrophy, Juvenile Cataracts, and Short Stature Syndrome
Rhizomelic Dysplasia Patterson Lowry Type
Rhizomelic Dysplasia, Scoliosis, and Retinitis Pigmentosa
Richieri Costa Guion-Almeida Syndrome
Richieri Costa Pereira Syndrome
Rommen Mueller Sybert Syndrome
Rowley-Rosenberg Syndrome
Rozin Hertz Goodman Syndrome
Sacral Agenesis with Vertebral Anomalies
Sanderson Fraser Syndrome
Sandhaus Ben-Ami Syndrome
Say Field Coldwell Syndrome
Schaap Taylor Baraitser Syndrome
Schimke X-Linked Mental Retardation Syndrome
Schinzel Giedion syndrome
Second Metatarsal-Metacarpal Syndrome
Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation
SHORT STATURE AND ADVANCED BONE AGE, WITH OR WITHOUT EARLY-ONSET OSTEOARTHRITIS AND/OR OSTEOCHONDRITIS DISSECANS
Short Stature Syndrome, Brussels Type
Short Stature, Amelogenesis Imperfecta, and Skeletal Dysplasia with Scoliosis
Short Stature, Facial Dysmorphism, Severe Brachydactyly, and Syndactyly
SHORT STATURE, IMPAIRED INTELLECTUAL DEVELOPMENT, MICROCEPHALY, HYPOTONIA, AND OCULAR ANOMALIES
Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis
Short Stature, Optic Nerve Atrophy, and Pelger-Huet Anomaly
SHOX-related short stature
Silver-Russell Syndrome 3
Slavotinek Pike Mills Hurst Syndrome
Split Hand, Split Foot, Nystagmus
split hand-foot malformation 1 with sensorineural hearing loss
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
spondyloepimetaphyseal dysplasia, Pakistani type
spondylometaphyseal dysplasia corner fracture type
Stern Lubinsky Durrie Syndrome
Stoll Alembik Dott Syndrome
Symphalangism with Multiple Anomalies of Hands and Feet
Symphalangism, C. S. Lewis Type
syndromic microphthalmia 8
syndromic X-linked intellectual disability Cabezas type
syndromic X-linked intellectual disability Turner type
Synostosis of Talus and Calcaneus with Short Stature
Synpolydactyly with Foot Anomalies
tarsal-carpal coalition syndrome +
Tatton-Brown-Rahman syndrome
Teebi hypertelorism syndrome +
Tel Hashomer Camptodactyly Syndrome
terminal osseous dysplasia
THAUVIN-ROBINET-FAIVRE SYNDROME
Theodor Hertz Goodman Syndrome
Thumb Agenesis, Short Stature, and Immunodeficiency
Tollner Horst Manzke Syndrome
trichorhinophalangeal syndrome type III
Trigonobrachycephaly, Bulbous Bifid Nose, Micrognathia, and Abnormalities of the Hands and Feet
Ulnar Hypoplasia with Lobster-Claw Deformity of Feet
Unilateral Aplasia of Extensor Muscles of Fingers, with Generalized Polyneuropathy
Vater-Like Defects with Pulmonary Hypertension, Laryngeal Webs, and Growth Deficiency
Ventricular Extrasystoles Perodactyly Robin Sequence
Vertebral Body Fusion Overgrowth
Viljoen Kallis Voges Syndrome
Volcke Soekarman Syndrome
Walbaum Titran Durieux Crepin Syndrome
Weill-Marchesani Syndrome 2
Wellesley Carmen French Syndrome
Weyers Ulnar Ray/Oligodactyly Syndrome
Wiedemann Grosse Dibbern Syndrome
Wiedemann-Steiner syndrome
X-linked mental retardation-hypotonic facies syndrome-1
XEROSIS AND GROWTH FAILURE WITH IMMUNE AND PULMONARY DYSFUNCTION SYNDROME
Zerres Rietschel Majewski Syndrome
Zimmerman Laband Syndrome +
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