Informaţii despre
| Nume | | Congenital malformation syndromes predominantly associated with short stature |
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| Pagina Web | | apps.who.int |
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| Boli A-Z | | Aarskog-Scott Syndrome
Alazami Syndrome
Autosomal Dominant Robinow Syndrome
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome
Campomelic Dysplasia
Camptodactyly Syndrome, Guadalajara, Type I
Camptodactyly Syndrome, Guadalajara, Type Ii
Chondrodysplasia-Pseudohermaphroditism Syndrome
Cockayne Syndrome
Coffin-Siris Syndrome 1
Coloboma of Macula with Type B Brachydactyly
Cornelia De Lange Syndrome
Coxoauricular Syndrome
Craniofrontonasal Syndrome
Disproportionate Short Stature with Ptosis and Valvular Heart Lesions
Dubowitz Syndrome
Facial Dysmorphism, Immunodeficiency, Livedo, and Short Stature
Finger Locking, Recurrent, with Intrauterine Growth Retardation and Proportionate Short Stature
Geleophysic Dysplasia
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Intrauterine Growth Restriction-Short Stature-Early Adult-Onset Diabetes Syndrome
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, and Genital Anomalies
Kenny-Caffey Syndrome
Kenny-Caffey Syndrome, Type 1
Kenny-Caffey Syndrome, Type 2
Keratosis Follicularis, Dwarfism, and Cerebral Atrophy
Langer Mesomelic Dysplasia
Lenz-Majewski Hyperostotic Dwarfism
Meier-Gorlin Syndrome 1
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Microcephalic Primordial Dwarfism, Montreal Type
Microcephalic Primordial Dwarfism, Toriello Type
Microcephaly 10, Primary, Autosomal Recessive
Microcephaly-Short Stature-Intellectual Disability-Facial Dysmorphism Syndrome
Mulibrey Nanism
Neurofibromatosis-Noonan Syndrome
Noonan Syndrome 1
Noonan Syndrome-Like Disorder with Loose Anagen Hair 1
Noonan Syndrome with Multiple Lentigines
Oculopalatocerebral Syndrome
Osteoglophonic Dysplasia
Parastremmatic Dwarfism
Pfeiffer-Palm-Teller Syndrome
Prader-Willi-Like Syndrome Due to a Point Mutation
Prader-Willi Syndrome
Prader-Willi Syndrome Due to Imprinting Mutation
Prader-Willi Syndrome Due to Maternal Uniparental Disomy of Chromosome 15
Prader-Willi Syndrome Due to Paternal 15q11q13 Deletion
Prader-Willi Syndrome Due to Paternal Deletion of 15q11q13 Type 1
Prader-Willi Syndrome Due to Paternal Deletion of 15q11q13 Type 2
Prader-Willi Syndrome Due to Translocation
Rapadilino Syndrome
Rhizomelic Syndrome
Robinow-Like Syndrome
Robinow Syndrome
Robinow Syndrome, Autosomal Dominant 1
Robinow Syndrome, Autosomal Dominant 2
Robinow Syndrome, Autosomal Dominant 3
Robinow Syndrome, Autosomal Recessive
Schaaf-Yang Syndrome
Seckel Syndrome
Seckel Syndrome 7
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, and Skeletal Abnormalities
Short Stature-Deafness-Neutrophil Dysfunction-Dysmorphism Syndrome
Short Stature, Idiopathic, X-Linked
Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis
Short Stature, Optic Nerve Atrophy, and Pelger-Huet Anomaly
Short Stature Syndrome, Brussels Type
Short Syndrome
Silver-Russell Syndrome
Silver-Russell Syndrome Due to 11p15 Microduplication
Silver-Russell Syndrome Due to 7p11.2p13 Microduplication
Silver-Russell Syndrome Due to an Imprinting Defect of 11p15
Silver-Russell Syndrome Due to a Point Mutation
Silver-Russell Syndrome Due to Maternal Uniparental Disomy of Chromosome 11
Silver-Russell Syndrome Due to Maternal Uniparental Disomy of Chromosome 7
Sjogren-Larsson Syndrome
Smith-Lemli-Opitz Syndrome
Stratton-Parker Syndrome
Trichorhinophalangeal Syndrome Type 1 and 3
Weill-Marchesani Syndrome 2
Wiedemann-Steiner Syndrome |
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