|
7q11.23 duplication syndrome
Abruzzo-Erickson syndrome
Acromegaloid Facial Appearance Syndrome
acromesomelic dysplasia-3
Acropectorovertebral Dysplasia
Agenesis of Corpus Callosum with Facial Anomalies and Robin Sequence
autosomal dominant nonsyndromic deafness 51
B-Cell Immunodeficiency, Distal Limb Anomalies, and Urogenital Malformations
Bagatelle Cassidy Syndrome
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome
Brachyolmia Type 1, Hobaek Type
calcaneonavicular coalition
Cardioacrofacial Dysplasia +
Carpal Synostosis with Dysplastic Elbow Joints and Brachydactyly
Cartwright Nelson Fryns Syndrome
Cerebrorenodigital Syndrome with Limb Malformations and Triradiate Acetabula
Chromosome 10q Duplication Syndrome
chromosome 16p11.2 duplication syndrome
chromosome 16p13.3 duplication syndrome
Chromosome 16q12 Duplication Syndrome
chromosome 17p13.3 duplication syndrome
chromosome 17q12 duplication syndrome
chromosome 17q21.31 duplication syndrome
Chromosome 17q23.1-q23.2 Duplication Syndrome
Chromosome 1p36.33 Duplication Syndrome
chromosome 1q21.1 duplication syndrome
chromosome 22q11.2 microduplication syndrome
chromosome 22q13 duplication syndrome
chromosome 2q31.1 duplication syndrome
chromosome 3q29 microduplication syndrome
chromosome 5p13 duplication syndrome
chromosome Xp11.22 duplication syndrome
chromosome Xp11.23-p11.22 duplication syndrome
Chromosome Xq13 Duplication Syndrome
Chromosome Xq26.3 Duplication Syndrome
Chromosome Xq27.3-q28 Duplication Syndrome
Chromosome Xq28 Duplication Syndrome
congenital limbs-face contractures-hypotonia-developmental delay syndrome
Congenital Upper Extremity Deformities +
Coronal Synostosis, Syndactyly and Jejunal Atresia
Craniomicromelic Syndrome
Der Kaloustian Mcintosh Silver Syndrome
Diaphragmatic Defects, Limb Deficiencies, and Ossification Defects Of Skull
Distal Transverse Limb Defects with Mental Retardation and Spasticity
ENDOVE SYNDROME, LIMB-BRAIN TYPE
fetal akinesia deformation sequence syndrome X-linked
fetal encasement syndrome
Freire-Maia Odontotrichomelic Syndrome
Grubben de Cock Borghgraef Syndrome
Hand and Foot Deformity with Flat Facies
Heart Defects Limb Shortening
hereditary mixed polyposis syndrome 1
Humeroradial Multiple Synostosis Syndrome
Humeroradial Synostosis with Craniofacial Anomalies
Ichthyosis Tapered Fingers Midline Groove Up
Intellectual Developmental Disorder with Dysmorphic Facies, Seizures, and Distal Limb Anomalies
ischiocoxopodopatellar syndrome
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
Mental Retardation Spasticity Ectrodactyly
Mesomelia-Synostoses Syndrome
Metaphyseal Anadysplasia +
Microphthalmia with Cyst, Bilateral Facial Clefts, and Limb Anomalies
Multiple Epiphyseal Dysplasia with Robin Phenotype
Multiple Pterygium Syndrome, X-Linked
multiple synostoses syndrome +
Nephrosis with Deafness and Urinary Tract and Digital Malformations
NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES
NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME
NF1 Microduplication Syndrome
Palant Cleft Palate Syndrome
partial trisomy distal 4q
postaxial acrofacial dysostosis
Powell Chandra Saal Syndrome
Prata Libéral Gonçalves Syndrome
Radial Ray Deficiency, X-Linked
Radiohumeral Fusions with Other Skeletal and Craniofacial Anomalies
Reardon Hall Slaney syndrome
Renal Dysplasia - Limb Defects Syndrome
Ruzicka Goerz Anton syndrome
Short Stature-Obesity Syndrome
Splenogonadal Fusion with Limb Defects and Micrognathia
split hand-foot malformation +
split hand-foot malformation 3
Split-Foot Malformation with Mesoaxial Polydactyly
Split-Hand with Obstructive Uropathy, Spina Bifida, and Diaphragmatic Defects
spondylocarpotarsal synostosis syndrome
Stern Lubinsky Durrie Syndrome
Symphalangism with Multiple Anomalies of Hands and Feet
syndactyly + A synostosis that results_in the fusion of two or more digits. (DO)
syndromic microphthalmia 6
syndromic X-linked intellectual disability Lubs type
tarsal-carpal coalition syndrome +
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
|
|