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acromesomelic dysplasia +
acromesomelic dysplasia, Grebe type
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
arthrogryposis multiplex congenita +
Asymmetric Short Stature Syndrome
Bird Headed Dwarfism Montreal Type
Brachydactylous Dwarfism Mseleni Type
Brachymetapody-Anodontia-Hypotrichosis-Albinoidism
Bullous Dystrophy, Hereditary Macular Type
Cantu Sanchez-Corona Fragoso Syndrome
Chondrodysplasia Calcificans Metaphysealis
Congenital Absence of Gluteal Muscles
Congenital Absence of the Sternocleidomastoid Muscle
CONGENITAL HEART DEFECTS AND SKELETAL MALFORMATIONS SYNDROME
Congenital Hip Dislocation +
congenital hypothyroidism +
Congenital Limb Deformities +
Craniofacial Abnormalities +
De Sanctis-Cacchione syndrome
Diabetes, Deafness, Developmental Delay, and Short Stature Syndrome
diphthamide deficiency syndrome +
Disproportionate Short Stature with Ptosis and Valvular Heart Lesions
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
Familial Dwarfism with Muscle Spasms
Familial Synovial Chondromatosis with Dwarfism
Female Pseudohermaphroditism with Skeletal Anomalies
GARG-MISHRA PROGEROID SYNDROME
geroderma osteodysplasticum
Growth Hormone Insensitivity with Immune Dysregulation +
Growth Retardation, Developmental Delay, Coarse Facies, and Early Death
Ichthyosis, Mental Retardation, Dwarfism, and Renal Impairment
IMAGAWA-MATSUMOTO SYNDROME
Immunoskeletal Dysplasia with Neurodevelopmental Abnormalities
intellectual developmental disorder with abnormal behavior, microcephaly, and short stature
Intellectual Developmental Disorder with Nasal Speech, Dysmorphic Facies, and Variable Skeletal Anomalies
intellectual developmental disorder with short stature and behavioral abnormalities
INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE AND VARIABLE SKELETAL ANOMALIES
INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE, FACIAL ANOMALIES, AND SPEECH DEFECTS
Iridogoniodysgenesis and Skeletal Anomalies
isolated growth hormone deficiency +
JOINT LAXITY, SHORT STATURE, AND MYOPIA
Kenny-Caffey syndrome type 2
Keratosis Follicularis, Dwarfism, and Cerebral Atrophy
Laplane Fontaine Lagardere Syndrome
Mental Retardation, Macrocephaly, Short Stature and Craniofacial Dysmorphism
Mesomelic Dwarfism of Hypoplastic Tibia and Radius Type
Mesomelic Dwarfism Reinhardt Pfeiffer Type
Metatropic Dwarfism, Type II
Microcephalic Osteodysplastic Primordial Dwarfism +
Microcephalic Primordial Dwarfism Toriello Type
Microcephaly, Short Stature, and Impaired Glucose Metabolism +
microcephaly, short stature, and limb abnormalities
Microcephaly, Short Stature, and Polymicrogyria with or without Seizures
Mollica Pavone Antener Syndrome
Mosaic Variegated Aneuploidy Syndrome 6
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, DYSMORPHIC FACIES, AND SKELETAL ANOMALIES, WITH OR WITHOUT SEIZURES
NEURODEVELOPMENTAL DISORDER WITH NEUROMUSCULAR AND SKELETAL ABNORMALITIES
NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH AND SKELETAL ANOMALIES
NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS
Oculopalatocerebral Syndrome
Oliver-McFarlane syndrome
OPHTHALMOPLEGIA, EXTERNAL, WITH RIB AND VERTEBRAL ANOMALIES
otospondylomegaepiphyseal dysplasia, autosomal recessive
PRIMORDIAL DWARFISM-IMMUNODEFICIENCY-LIPODYSTROPHY SYNDROME
Proportionate Dwarfism with Hip Dislocation
Pseudodiastrophic Dysplasia
Rommen Mueller Sybert Syndrome
Sacral Agenesis with Vertebral Anomalies
Sacrococcygeal Dysgenesis Association
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
Spondyloepiphyseal Dysplasia Tarda, Toledo Type
spondylometaepiphyseal dysplasia, short limb-hand type
spondylometaphyseal dysplasia Megarbane-Dagher-Melike type
Stolerman neurodevelopmental syndrome
Tessadori-van Haaften Neurodevelopmental Syndrome 1
Thoraco Limb Dysplasia Rivera Type
Tryptophanuria with Dwarfism
Weill-Marchesani syndrome +
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