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3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia +
Acid-Labile Subunit Deficiency
Acquired Pure Megakaryocytic Aplasia
acquired thrombocytopenia +
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
allergic cutaneous vasculitis +
Aphalangia Syndactyly Microcephaly
autoimmune disease of skin and connective tissue +
Bainbridge-Ropers syndrome
Bellini Chiumello Rimoldi Syndrome
Bhaskar Jagannathan Syndrome
Blepharophimosis with Ptosis, Syndactyly, and Short Stature
Borjeson-Forssman-Lehmann syndrome
Boudhina Yedes Khiari syndrome
Braddock Carey Syndrome +
Cantalamessa Baldini Ambrosi Syndrome
Cantu Sanchez-Corona Fragoso Syndrome
Cataracts, Ataxia, Short Stature, and Mental Retardation
Charcot-Marie-Tooth Neuropathy, Dominant Intermediate B, with Neutropenia
Chitty Hall Baraitser Syndrome
chromosome 15q26-qter deletion syndrome
chromosome 17q11.2 deletion syndrome
Chromosome 18 Pericentric Inversion
congenital amegakaryocytic thrombocytopenia +
congenital disorder of glycosylation Ix
Congenital Progeroid Syndrome, Petty Type
contagious pustular dermatitis
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, and Growth and Developmental Retardation
Crumpled Helices and Small Mouth
Curatolo Cilio Pessagno Syndrome
cutaneous lupus erythematosus +
Daish Hardman Lamont Syndrome
diphthamide deficiency syndrome 1
Distal Renal Tubular Acidosis, with Nephrocalcinosis, Short Stature, Mental Retardation, and Distinctive Facies
Drug-induced Neutropenia +
Duplication of Eyebrows with Stretchable Skin and Syndactyly
Dyschondrosteosis and Nephritis
Ectodermal Dysplasia-Skin Fragility Syndrome
ECTODERMAL DYSPLASIA/SHORT STATURE SYNDROME
Eczematous Skin Diseases +
Elastosis Perforans Serpiginosa
Elliott Ludman Teebi Syndrome
endometriosis in scar of skin
Epithelial Squamous Dysplasia, Keratinizing Desquamative, of Urinary Tract
erythematosquamous dermatosis
Facial Dysmorphism, Immunodeficiency, Livedo, and Short Stature
Fallot Complex with Severe Mental and Growth Retardation
Fetal Growth Retardation +
Forsythe-Wakeling Syndrome
Game Friedman Paradice Syndrome
Gardner Morrisson Abbot Syndrome
Gay Feinmesser Cohen Syndrome
Generalized Lipodystrophy with Mental Retardation, Deafness, Short Stature, and Slender Bones
Giant Platelet Syndrome with Thrombocytopenia
glycogen storage disease IX +
Gomez Lopez Hernandez Syndrome
Goniodysgenesis-Mental Retardation-Short Stature Syndrome
granulomatosis with polyangiitis +
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 spastic paraplegia 9A
Hernandez Fragoso Syndrome
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
Infectious Skin Diseases +
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
Isolated Macrothrombocytopenia +
Johanson-Blizzard syndrome
Kasabach-Merritt 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
Lethal Congenital Neutropenia with Eosinophilia
Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis
Macroepiphyseal Dysplasia, McAlister Coe Type
Macrosomia Adiposa Congenita
Malocclusion and Short Stature
Median Cleft Lip, Corpus Callosum, Lipoma, and Skin Polyps
Mental and Growth Retardation with Amblyopia
Mental Retardation Mietens Weber Type
Mental Retardation with Optic Atrophy, Facial Dysmorphism, Microcephaly, and Short Stature
Mental Retardation, Joint Hypermobility, and Skin Laxity, with or without Metabolic Abnormalities
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, and Facial Dysmorphism
Metabolic Skin Diseases +
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
Microdontia Hypodontia Short Stature
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
multicentric reticulohistiocytosis
Multiform Ventricular Extrasystoles with Short Stature, Hyperpigmentation and Microcephaly
multiple cutaneous and mucosal venous malformations
Myelodysplasia, Immunodeficiency, Facial Dysmorphism, Short Stature, and Psychomotor Delay
Necrolytic Migratory Erythema
Neonatal Alloimmune Thrombocytopenia
Neonatal Zinc Deficiency due to Low Breast Milk Zinc
Nephrogenic Fibrosing Dermopathy
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
Nonimmune Chronic Idiopathic Neutropenia, Adult
noninfectious dermatoses of eyelid +
Onychotrichodysplasia and Neutropenia
Osteolysis Syndrome, Recessive
Papulosquamous Skin Diseases +
Partington Anderson Syndrome
Pectus Excavatum, Macrocephaly, Short Stature, Dysplastic Nails
Petty Laxova Wiedemann Syndrome
Pfeiffer Kapferer Syndrome
Pfeiffer Palm Teller Syndrome
photosensitivity disease +
Pili Torti, Developmental Delay, Neurological Abnormalities
platelet-type bleeding disorder 15
platelet-type bleeding disorder 17
platelet-type bleeding disorder 9
poikiloderma with neutropenia
Premature Aging, Okamoto Type
Progeria Short Stature Pigmented Nevi
Radioulnar Synostosis Retinal Pigment Abnormalities
Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia +
Rajab Interstitial Lung Disease with Brain Calcifications 1
reactive cutaneous fibrous lesion +
Reardon Wilson Cavanagh Syndrome
Retinal Dystrophy, Juvenile Cataracts, and Short Stature Syndrome
Rhizomelic Dysplasia, Scoliosis, and Retinitis Pigmentosa
Rhizomelic Osteochondrodysplasia with Callosal Agenesis, Thrombocytopenia, Hydrocephalus, and Hypertension
Rommen Mueller Sybert Syndrome
Rowley-Rosenberg Syndrome
Roy Maroteaux Kremp Syndrome
Schaap Taylor Baraitser Syndrome
Schimke X-Linked Mental Retardation Syndrome
sebaceous gland disease +
Severe Chronic Neutropenia
Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation
severe congenital neutropenia +
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
Spastic Paraplegia and Evans Syndrome
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
spondyloepimetaphyseal dysplasia, Pakistani type
spondylometaphyseal dysplasia corner fracture type
Stern Lubinsky Durrie Syndrome
syndromic X-linked intellectual disability Cabezas type
syndromic X-linked intellectual disability Turner type
Synostosis of Talus and Calcaneus with Short Stature
Takenouchi-Kosaki Syndrome
Tatton-Brown-Rahman syndrome
Tetraphocomelia-Thrombocytopenia Syndrome
THAUVIN-ROBINET-FAIVRE SYNDROME
Theodor Hertz Goodman Syndrome
Thrombocytopenia Absent Ulnar Syndrome
thrombocytopenia due to platelet alloimmunization +
Thrombocytopenia with Elevated Serum Iga and Renal Disease
Thrombocytopenia, Anemia, and Myelofibrosis
thrombocytopenia-absent radius syndrome
Thrombotic Microangiopathies +
Thumb Agenesis, Short Stature, and Immunodeficiency
transient neonatal neutropenia +
transient neonatal thrombocytopenia
Vater-Like Defects with Pulmonary Hypertension, Laryngeal Webs, and Growth Deficiency
verruciform xanthoma of skin
Vertebral Body Fusion Overgrowth
Viljoen Kallis Voges Syndrome
Volcke Soekarman Syndrome
Weill-Marchesani Syndrome 2
Wellesley Carmen French Syndrome
Wiedemann Grosse Dibbern Syndrome
Wiedemann-Steiner syndrome
X-linked dyserythropoietic anemia
X-linked mental retardation-hypotonic facies syndrome-1
X-linked thrombocytopenia with beta-thalassemia
X-Linked Thrombocytopenia, Intermittent
X-Linked Thrombocytopenia, with or without Dyserythropoietic Anemia
XEROSIS AND GROWTH FAILURE WITH IMMUNE AND PULMONARY DYSFUNCTION SYNDROME This disease is characterized by premature birth, intrauterine and postnatal growth retardation, and collodion membrane or collodion-like skin at birth with dry skin thereafter. Patients also exhibit bronchopulmonary disease and thrombocytopenia and neutropenia. Affected individuals die within the first year of life.
Zerres Rietschel Majewski Syndrome
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