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Abruzzo-Erickson syndrome
Acromegaloid Facial Appearance Syndrome
acromesomelic dysplasia +
acromesomelic dysplasia-3
Agenesis of Corpus Callosum with Facial Anomalies and Robin Sequence
Alaninuria with Microcephaly, Dwarfism, Enamel Hypoplasia, and Diabetes Mellitus
Alopecia Contractures Dwarfism Mental Retardation
Amino Aciduria with Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, and Acidosis
Asymmetric Short Stature Syndrome
B-Cell Immunodeficiency, Distal Limb Anomalies, and Urogenital Malformations
Bagatelle Cassidy Syndrome
Bird Headed Dwarfism Montreal Type
Brachydactylous Dwarfism Mseleni Type
Brachymetapody-Anodontia-Hypotrichosis-Albinoidism
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome
Brachyolmia Type 1, Hobaek Type
Bullous Dystrophy, Hereditary Macular Type
Cantu Sanchez-Corona Fragoso Syndrome
Cardioacrofacial Dysplasia +
Cartwright Nelson Fryns Syndrome
Cerebrorenodigital Syndrome with Limb Malformations and Triradiate Acetabula
Chondrodysplasia Calcificans Metaphysealis
congenital hypothyroidism +
congenital limbs-face contractures-hypotonia-developmental delay syndrome
Congenital Upper Extremity Deformities +
Craniomicromelic Syndrome
De Sanctis-Cacchione syndrome
Diabetes, Deafness, Developmental Delay, and Short Stature Syndrome
Diaphragmatic Defects, Limb Deficiencies, and Ossification Defects Of Skull
diphthamide deficiency syndrome +
Disproportionate Short Stature with Ptosis and Valvular Heart Lesions
Distal Transverse Limb Defects with Mental Retardation and Spasticity
Dwarfism Stiff Joint Ocular Abnormalities
Dwarfism with Tall Vertebrae
Dwarfism, Low-Birth-Weight Type, with Unresponsiveness to Growth Hormone
Dyggve-Melchior-Clausen disease +
Dyssegmental Dysplasia with Glaucoma
ECTODERMAL DYSPLASIA/SHORT STATURE SYNDROME
ENDOVE SYNDROME, LIMB-BRAIN TYPE
Familial Dwarfism with Muscle Spasms
Familial Synovial Chondromatosis with Dwarfism
fetal akinesia deformation sequence syndrome X-linked
fetal encasement syndrome
Freire-Maia Odontotrichomelic Syndrome
GARG-MISHRA PROGEROID SYNDROME
geroderma osteodysplasticum
Growth Hormone Insensitivity with Immune Dysregulation +
Growth Retardation, Developmental Delay, Coarse Facies, and Early Death
Grubben de Cock Borghgraef Syndrome
Hand and Foot Deformity with Flat Facies
Heart Defects Limb Shortening
Ichthyosis Tapered Fingers Midline Groove Up
Ichthyosis, Mental Retardation, Dwarfism, and Renal Impairment
intellectual developmental disorder with abnormal behavior, microcephaly, and short stature
Intellectual Developmental Disorder with Dysmorphic Facies, Seizures, and Distal Limb Anomalies
intellectual developmental disorder with short stature and behavioral abnormalities
INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE, FACIAL ANOMALIES, AND SPEECH DEFECTS
isolated growth hormone deficiency +
JOINT LAXITY, SHORT STATURE, AND MYOPIA
Kaplan Plauchu Fitch Syndrome
Kaufman oculocerebrofacial syndrome
Kenny-Caffey syndrome type 2
Keratosis Follicularis, Dwarfism, and Cerebral Atrophy
Laplane Fontaine Lagardere Syndrome
Laryngeal Atresia, Encephalocele, and Limb Deformities
Le Marec Bracq Picaud Syndrome
Lethal Faciocardiomelic Dysplasia
Lower Extremity Deformities, Congenital +
Lynch Lee Murday syndrome
Mental Retardation Spasticity Ectrodactyly
Mental Retardation, Macrocephaly, Short Stature and Craniofacial Dysmorphism
Mesomelia-Synostoses Syndrome
Mesomelic Dwarfism of Hypoplastic Tibia and Radius Type
Mesomelic Dwarfism Reinhardt Pfeiffer Type
Metaphyseal Anadysplasia +
Metatropic Dwarfism, Type II
Microcephalic Osteodysplastic Primordial Dwarfism +
Microcephalic Primordial Dwarfism Toriello Type
Microcephaly, Short Stature, and Impaired Glucose Metabolism +
Microcephaly, Short Stature, and Polymicrogyria with or without Seizures
Microphthalmia with Cyst, Bilateral Facial Clefts, and Limb Anomalies
Mollica Pavone Antener Syndrome
Mosaic Variegated Aneuploidy Syndrome 6
Multiple Epiphyseal Dysplasia with Robin Phenotype
Multiple Pterygium Syndrome, X-Linked
Nephrosis with Deafness and Urinary Tract and Digital Malformations
NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES
NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME
Oculopalatocerebral Syndrome
Oliver-McFarlane syndrome
otospondylomegaepiphyseal dysplasia, autosomal recessive
Palant Cleft Palate Syndrome
postaxial acrofacial dysostosis
Powell Chandra Saal Syndrome
PRIMORDIAL DWARFISM-IMMUNODEFICIENCY-LIPODYSTROPHY SYNDROME
Proportionate Dwarfism with Hip Dislocation
Pseudodiastrophic Dysplasia
Radial Ray Deficiency, X-Linked
Radiohumeral Fusions with Other Skeletal and Craniofacial Anomalies
Reardon Hall Slaney syndrome
Renal Dysplasia - Limb Defects Syndrome
Rommen Mueller Sybert Syndrome
Ruzicka Goerz Anton syndrome
Seckel Like Syndrome Type Buebel
Short Limb Dwarfism Al Gazali Type
Short Stature and Facioauriculothoracic Malformations
Short Stature and Microcephaly with Genital Anomalies
SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES
Short Stature with Nonspecific Skeletal Abnormalities
SHORT STATURE, DAUBER-ARGENTE TYPE
Short Stature, Developmental Delay, and Congenital Heart Defects
Short Stature, Facial Dysmorphism, and Skeletal Anomalies with or without Cardiac Anomalies +
short stature, hearing loss, retinitis pigmentosa, and distinctive facies
Short Stature, Impaired Intellectual Development, Callosal Agenesis, Heminasal Hypoplasia, Microphthalmia, and Atypical Clefting
SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION
SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY
SHORT STATURE-MICROGNATHIA SYNDROME
Short Stature-Obesity Syndrome
Silver-Russell syndrome +
Silverman-Handmaker type dyssegmental dysplasia
Singh Chhaparwal Dhanda Syndrome
SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE
Splenogonadal Fusion with Limb Defects and Micrognathia
split hand-foot malformation +
Split-Foot Malformation with Mesoaxial Polydactyly
Split-Hand with Obstructive Uropathy, Spina Bifida, and Diaphragmatic Defects
Spondyloepiphyseal Dysplasia Tarda, Toledo Type
spondylometaepiphyseal dysplasia, short limb-hand type
spondylometaphyseal dysplasia Megarbane-Dagher-Melike type
Stern Lubinsky Durrie Syndrome
syndromic microphthalmia 6
Tessadori-van Haaften Neurodevelopmental Syndrome 1
Tetramelic Postaxial Oligodactyly
thanatophoric dysplasia +
Thoracic Dysplasia-Hydrocephalus Syndrome
Thoraco Limb Dysplasia Rivera Type
Tryptophanuria with Dwarfism
Ulnar Hypoplasia with Mental Retardation
Viljoen Kallis Voges Syndrome
Weill-Marchesani syndrome +
Weill-Marchesani Syndrome 3
Weyers acrofacial dysostosis
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