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Abruzzo-Erickson syndrome
Acromegaloid Facial Appearance Syndrome
acromesomelic dysplasia-3
Agenesis of Corpus Callosum with Facial Anomalies and Robin Sequence
Agonadism, XY, with Mental Retardation, Short Stature, Retarded Bone Age, and Multiple Extragenital Malformations
Angel Shaped Phalangoepiphyseal Dysplasia
APLASIA/HYPOPLASIA INVOLVING BONES OF THE LOWER LIMBS
B-Cell Immunodeficiency, Distal Limb Anomalies, and Urogenital Malformations
Baby Rattle Pelvis Dysplasia
Bagatelle Cassidy Syndrome
Bazopoulou Kyrkanidou Syndrome
Bellini Chiumello Rimoldi Syndrome
Bent Bone Dysplasia Syndrome +
Brachymesomelia Renal Syndrome
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome
Brachyolmia Type 1, Hobaek Type
Camptodactyly, Fibrous Tissue Hyperplasia, and Skeletal Dysplasia
camptodactyly-tall stature-scoliosis-hearing loss syndrome
Cardioacrofacial Dysplasia +
Cartwright Nelson Fryns Syndrome
Cerebrorenodigital Syndrome with Limb Malformations and Triradiate Acetabula
Cervical Vertebral Dysplasia
Conductive Deafness with Ptosis and Skeletal Anomalies
congenital limbs-face contractures-hypotonia-developmental delay syndrome
Congenital Upper Extremity Deformities +
Cortical Defects, Wormian Bones, and Dentinogenesis Imperfecta
craniolenticulosutural dysplasia
Craniomicromelic Syndrome
developmental dysplasia of the hip +
Diaphragmatic Defects, Limb Deficiencies, and Ossification Defects Of Skull
Disproportionate Tall Stature
Distal Transverse Limb Defects with Mental Retardation and Spasticity
Dysplasia Epiphysealis Hemimelica +
ENDOVE SYNDROME, LIMB-BRAIN TYPE
fetal akinesia deformation sequence syndrome X-linked
fetal encasement syndrome
Freire-Maia Odontotrichomelic Syndrome
Fryns Hofkens Fabry Syndrome
Grubben de Cock Borghgraef Syndrome
Gurrieri Sammito Bellussi Syndrome
Hall Riggs Mental Retardation Syndrome
Hand and Foot Deformity with Flat Facies
Heart Defects Limb Shortening
Ichthyosis Tapered Fingers Midline Groove Up
Intellectual Developmental Disorder with Dysmorphic Facies, Seizures, and Distal Limb Anomalies
Kantaputra Gorlin Syndrome
Kaplan Plauchu Fitch Syndrome
Kaufman oculocerebrofacial syndrome
Kozlowski Rafinski Klicharska Syndrome
Kozlowski Warren Fisher Syndrome
Laryngeal Atresia, Encephalocele, and Limb Deformities
Le Marec Bracq Picaud Syndrome
Lenz-Majewski hyperostotic dwarfism
Lethal Bone Dysplasia, Holmgren Type
Lethal Faciocardiomelic Dysplasia
Lissencephaly Type III and Bone Dysplasia
Lower Extremity Deformities, Congenital +
Lynch Lee Murday syndrome
Macroepiphyseal Dysplasia, McAlister Coe Type
mandibuloacral dysplasia +
Membranous Cranial Ossification, Delayed
Mental Retardation Spasticity Ectrodactyly
Mesomelia-Synostoses Syndrome
Mesomelic Limb Shortening and Bowing
Metaphyseal Anadysplasia +
Microphthalmia with Cyst, Bilateral Facial Clefts, and Limb Anomalies
Miura type epiphyseal chondrodysplasia
Multiple Epiphyseal Dysplasia with Robin Phenotype
Multiple Pterygium Syndrome, X-Linked
Nephrosis with Deafness and Urinary Tract and Digital Malformations
Neurodevelopmental Disorder with Craniofacial Dysmorphism and Skeletal Defects
NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES
NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND ISCHIOPUBIC HYPOPLASIA
NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME
nevoid basal cell carcinoma syndrome +
Osteosclerosis with Ichthyosis and Premature Ovarian Failure
Palant Cleft Palate Syndrome
Patterson Pseudoleprechaunism Syndrome
PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES
postaxial acrofacial dysostosis
Powell Chandra Saal Syndrome
Radial Ray Deficiency, X-Linked
Radiohumeral Fusions with Other Skeletal and Craniofacial Anomalies
Radius Absent Anogenital Anomalies
Reardon Hall Slaney syndrome
Renal Dysplasia - Limb Defects Syndrome
Rhizomelic Dysplasia Patterson Lowry Type
RHIZOMELIC DYSPLASIA, AIN-NAZ TYPE
Rhizomelic Dysplasia, Scoliosis, and Retinitis Pigmentosa
RHIZOMELIC LIMB SHORTENING WITH DYSMORPHIC FEATURES
Rhizomelic Skeletal Dysplasia with Retinitis Pigmentosa
Roifman-Chitayat Syndrome
Ruzicka Goerz Anton syndrome
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, Skeletal Abnormalities
Short Stature, Brachydactyly, Intellectual Developmental Disability, and Seizures
Short Stature, Facial Dysmorphism, and Skeletal Anomalies with or without Cardiac Anomalies +
Short Stature-Obesity Syndrome
SHOX-related short stature
Shwachman-Diamond Syndrome 2
Skeletal Defects, Genital Hypoplasia, And Mental Retardation
Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal
Skeletal Dysplasia with Delayed Epiphyseal and Carpal Bone Ossification
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
Spondyloepimetaphyseal Dysplasia, Aggrecan Type
Spranger Schinzel Myers Syndrome
Stern Lubinsky Durrie Syndrome
Stoll Levy Francfort Syndrome
syndromic microphthalmia 6
Tetramelic Postaxial Oligodactyly
thanatophoric dysplasia +
Thoracic Dysplasia-Hydrocephalus Syndrome
Thoraco Limb Dysplasia Rivera Type
Trichoodontoonychial Dysplasia
Ulnar Hypoplasia with Mental Retardation
Vertebral Body Fusion Overgrowth
Viljoen Kallis Voges Syndrome
vitamin D-dependent rickets +
Weill-Marchesani Syndrome 3
Weyers acrofacial dysostosis
Wiedemann Oldigs Oppermann Syndrome
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