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Term With Siblings |
Child Terms |
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Absent Eyebrows and Eyelashes with Mental Retardation
Acid-Labile Subunit Deficiency
acrocapitofemoral dysplasia
Acrocephalopolydactylous Dysplasia
Acromegaloid Features, Overgrowth, Cleft Palate, and Hernia
Agonadism, XY, with Mental Retardation, Short Stature, Retarded Bone Age, and Multiple Extragenital Malformations
Al Gazali Khidr Prem Chandran Syndrome
Anomalous Coracoclavicular Joint
anterior segment dysgenesis 3
anterior segment dysgenesis 4
Aphalangia Syndactyly Microcephaly
arthrogryposis multiplex congenita +
articular cartilage disease +
autoimmune interstitial lung, joint, and kidney disease
Bainbridge-Ropers syndrome
Behcet's syndrome arthropathy
Bellini Chiumello Rimoldi Syndrome
Bhaskar Jagannathan Syndrome
Blepharophimosis with Ptosis, Syndactyly, and Short Stature
Blepharoptosis, Myopia, and Ectopia Lentis
Borjeson-Forssman-Lehmann syndrome
Boudhina Yedes Khiari syndrome
Brachydactylous Dwarfism Mseleni Type
Braddock Carey Syndrome +
Cantalamessa Baldini Ambrosi Syndrome
Cantu Sanchez-Corona Fragoso Syndrome
Cataract 50 with or without Glaucoma
Cataracts, Ataxia, Short Stature, and Mental Retardation
Chitty Hall Baraitser Syndrome
chromosome 15q26-qter deletion syndrome
chromosome 17q11.2 deletion syndrome
Chromosome 18 Pericentric Inversion
Congenital Progeroid Syndrome, Petty Type
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, and Growth and Developmental Retardation
Craniosynostosis with Ectopia Lentis
Crumpled Helices and Small Mouth
Curatolo Cilio Pessagno Syndrome
Daish Hardman Lamont Syndrome
diphthamide deficiency syndrome 1
Distal Renal Tubular Acidosis, with Nephrocalcinosis, Short Stature, Mental Retardation, and Distinctive Facies
Dwarfism Stiff Joint Ocular Abnormalities
Dyschondrosteosis and Nephritis
Dyssegmental Dysplasia with Glaucoma
ECTODERMAL DYSPLASIA/SHORT STATURE SYNDROME
ectopia lentis with ectopia of pupil
Ectopia Lentis, Spontaneous Filtering Blebs, and Craniofacial Dysmorphism
Epithelial Squamous Dysplasia, Keratinizing Desquamative, of Urinary Tract
Facial Dysmorphism, Immunodeficiency, Livedo, and Short Stature
Fallot Complex with Severe Mental and Growth Retardation
Femoracetabular Impingement
Fetal Growth Retardation +
Forsythe-Wakeling Syndrome
Friedreich Ataxia Congenital Glaucoma
Game Friedman Paradice Syndrome
ganglion or cyst of synovium/tendon/bursa
Gay Feinmesser Cohen Syndrome
Generalized Lipodystrophy with Mental Retardation, Deafness, Short Stature, and Slender Bones
Ghose Sachdev Kumar Syndrome
Glaucoma 3, Primary Infantile, B
glaucomatous atrophy of optic disc
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
Heme Oxygenase 1 Deficiency
hereditary arterial and articular multiple calcification syndrome +
hereditary spastic paraplegia 9A
Hersh Podruch Weisskopf Syndrome
Heyn-Sproul-Jackson Syndrome
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
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
Iris Hypoplasia and Glaucoma
isolated ectopia lentis +
Johanson-Blizzard syndrome
Joint Deformities, Acquired
Kozlowski Rafinski Klicharska Syndrome
Kuster Majewski Hammerstein Syndrome
Ladda Zonana Ramer Syndrome
Langer Mesomelic Dysplasia
Laplane Fontaine Lagardere Syndrome
Larsen-like syndrome B3GAT3 type
Laryngotracheal Stenosis, Progressive, with Short Stature and Arthropathy
Leri-Weill dyschondrosteosis
Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis
MacKay Shek Carr Syndrome
Macrosomia Adiposa Congenita
Malocclusion and Short Stature
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
Microcephaly with Cervical Spine Fusion 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
Microcornea, Glaucoma, and Absent Frontal Sinuses
Microdontia Hypodontia Short Stature
Microspherophakia and/or Megalocornea, with Ectopia Lentis and with or without Secondary Glaucoma
Milner Khallouf Gibson Syndrome
Mitochondrial Myopathy with Lactic Acidosis
Mollica Pavone Antener Syndrome
Morillo-Cucci Passarge Syndrome
Mosaic Variegated Aneuploidy Syndrome 5
Mosaic Variegated Aneuploidy Syndrome 6
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
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 short stature, prominent forehead, and feeding difficulties
neurodevelopmental disorder with spasticity and poor growth
Neurofaciodigitorenal Syndrome
Nijmegen Breakage Syndrome-Like Disorder
Noble Bass Sherman Syndrome
Osteolysis Syndrome, Recessive
Partington Anderson Syndrome
patellofemoral pain syndrome
Pectus Excavatum, Macrocephaly, Short Stature, Dysplastic Nails
Peters Anomaly with Cataract
Petty Laxova Wiedemann Syndrome
Pfeiffer Kapferer Syndrome
Pfeiffer Palm Teller Syndrome
Pili Torti, Developmental Delay, Neurological Abnormalities
Premature Aging, Okamoto Type
primary congenital glaucoma +
primary hypertrophic osteoarthropathy +
Progeria Short Stature Pigmented Nevi
progressive pseudorheumatoid arthropathy of childhood
Proximal Renal Tubular Acidosis, with Ocular Abnormalities and Mental Retardation
Radioulnar Synostosis Retinal Pigment Abnormalities
Rajab Interstitial Lung Disease with Brain Calcifications 1
Reardon Wilson Cavanagh Syndrome
Retinal Dystrophy, Juvenile Cataracts, and Short Stature Syndrome
Rhizomelic Dysplasia, Scoliosis, and Retinitis Pigmentosa
Rommen Mueller Sybert Syndrome
Rowley-Rosenberg Syndrome
Schaap Taylor Baraitser Syndrome
Schimke X-Linked Mental Retardation Syndrome
Schwartz-Jampel syndrome 1
secondary hypertrophic osteoarthropathy
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 and Locking Fingers
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
shoulder impingement syndrome
SHOX-related short stature
Silver-Russell Syndrome 3
Slavotinek Pike Mills Hurst Syndrome
Spastic Paresis, Glaucoma, and Mental Retardation
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
spondyloepimetaphyseal dysplasia, Pakistani type
spondylometaphyseal dysplasia corner fracture type
Stern Lubinsky Durrie Syndrome
steroid-induced glaucoma +
syndromic X-linked intellectual disability Cabezas type
syndromic X-linked intellectual disability Turner type
Synostosis of Talus and Calcaneus with Short Stature
Synovial Chondromatosis +
Tatton-Brown-Rahman syndrome
Temporomandibular Joint Disorders +
Tetralogy of Fallot and Glaucoma
Thai Symphalangism Syndrome
THAUVIN-ROBINET-FAIVRE SYNDROME
Theodor Hertz Goodman Syndrome
Thumb Agenesis, Short Stature, and Immunodeficiency
Vater-Like Defects with Pulmonary Hypertension, Laryngeal Webs, and Growth Deficiency
Vertebral Body Fusion Overgrowth
Viljoen Kallis Voges Syndrome
Volcke Soekarman Syndrome
Weill-Marchesani Syndrome 1
Weill-Marchesani Syndrome 2
Weill-Marchesani Syndrome 3
Weill-Marchesani Syndrome 4
Wellesley Carmen French 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
Zazam Sheriff Phillips Syndrome
Zerres Rietschel Majewski Syndrome
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| Synonyms |
| Exact Synonyms: |
GEMMS
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GEMSS Syndrome
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Glaucoma, Ectopia, Microspherophakia, Stiff joints, Short stature syndrome
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Glaucoma-Lens Ectopia-Microspherophakia-Stiffness-Shortness Syndrome
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WMS2
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Weill Marchesani syndrome, autosomal dominant
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| Primary IDs: |
MESH:C537679
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| Alternate IDs: |
OMIM:608328
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