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Abruzzo-Erickson syndrome
acrofrontofacionasal dysostosis
Acromegaloid Facial Appearance Syndrome
acromesomelic dysplasia-3
Agenesis of Cervical Vertebrae
Agenesis of Corpus Callosum with Facial Anomalies and Robin Sequence
B-Cell Immunodeficiency, Distal Limb Anomalies, and Urogenital Malformations
Bagatelle Cassidy Syndrome
brachydactyly + A dysostosis characterized by short fingers and toes. (DO)
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome
Brachyolmia Type 1, Hobaek Type
Camptodactyly Joint Contractures and Facial Skeletal Dysplasia
Cardioacrofacial Dysplasia +
Cartwright Nelson Fryns Syndrome
Cenani-Lenz syndactyly syndrome
Cerebrorenodigital Syndrome with Limb Malformations and Triradiate Acetabula
congenital limbs-face contractures-hypotonia-developmental delay syndrome
Congenital Upper Extremity Deformities +
contractures, pterygia, and spondylocarpotarsal fusion syndrome +
Craniomicromelic Syndrome
Diaphanospondylodysostosis
Diaphragmatic Defects, Limb Deficiencies, and Ossification Defects Of Skull
Distal Transverse Limb Defects with Mental Retardation and Spasticity
DYSOSTOSIS MULTIPLEX, AIN-NAZ TYPE
ENDOVE SYNDROME, LIMB-BRAIN TYPE
fetal akinesia deformation sequence syndrome X-linked
fetal encasement syndrome
Freire-Maia Odontotrichomelic Syndrome
Fronto-Facio-Nasal Dysplasia
Grubben de Cock Borghgraef Syndrome
Hand and Foot Deformity with Flat Facies
Heart Defects Limb Shortening
Humerofemoral Hypoplasia with Radiotibial Ray Deficiency
Ichthyosis Tapered Fingers Midline Groove Up
Intellectual Developmental Disorder with Dysmorphic Facies, Seizures, and Distal Limb Anomalies
Isolated Thoracic Dysostosis
Kaplan Plauchu Fitch Syndrome
Kaufman oculocerebrofacial syndrome
Laryngeal Atresia, Encephalocele, and Limb Deformities
Le Marec Bracq Picaud Syndrome
Lethal Faciocardiomelic Dysplasia
Lower Extremity Deformities, Congenital +
Lynch Lee Murday syndrome
Mandibulofacial Dysostosis Syndrome, Bauru Type
Mandibulofacial Dysostosis with Macroblepharon and Macrostomia
Mental Retardation Spasticity Ectrodactyly
Mesomelia-Synostoses Syndrome
Metaphyseal Anadysplasia +
Metaphyseal Dysostosis, Mental Retardation, and Conductive Deafness
Microphthalmia with Cyst, Bilateral Facial Clefts, and Limb Anomalies
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
orofaciodigital syndrome +
Palant Cleft Palate Syndrome
postaxial acrofacial dysostosis
Powell Chandra Saal Syndrome
Radial Ray Deficiency, X-Linked
Radiohumeral Fusions with Other Skeletal and Craniofacial Anomalies
Reardon Hall Slaney syndrome
Renal Dysplasia - Limb Defects Syndrome
Rubinstein-Taybi syndrome +
Ruzicka Goerz Anton syndrome
Short Stature-Obesity Syndrome
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
spondylocostal dysostosis +
Spondylospinal Thoracic Dysostosis
Stern Lubinsky Durrie Syndrome
syndromic microphthalmia 6
Tetramelic Postaxial Oligodactyly
thanatophoric dysplasia +
Thoracic Dysplasia-Hydrocephalus Syndrome
Thoraco Limb Dysplasia Rivera Type
Ulnar Hypoplasia with Mental Retardation
Viljoen Kallis Voges Syndrome
Weill-Marchesani Syndrome 3
Weyers acrofacial dysostosis
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