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Abruzzo-Erickson syndrome
Acromegaloid Facial Appearance Syndrome
acromesomelic dysplasia-3
Agenesis of Corpus Callosum with Facial Anomalies and Robin Sequence
agnathia-otocephaly complex
arthrogryposis multiplex congenita +
autosomal dominant congenital deafness with onychodystrophy
autosomal recessive congenital ichthyosis +
B-Cell Immunodeficiency, Distal Limb Anomalies, and Urogenital Malformations
Bagatelle Cassidy Syndrome
bladder exstrophy-epispadias-cloacal exstrophy complex +
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome
Brachyolmia Type 1, Hobaek Type
Cardioacrofacial Dysplasia +
Cartwright Nelson Fryns Syndrome
caudal regression syndrome
Cerebrorenodigital Syndrome with Limb Malformations and Triradiate Acetabula
cleft palate-lateral synechia syndrome
Compton-North congenital myopathy
congenital adrenal hyperplasia +
congenital adrenal insufficiency
congenital afibrinogenemia +
congenital amegakaryocytic thrombocytopenia +
congenital bilateral absence of vas deferens +
congenital bile acid synthesis defect +
congenital central hypoventilation syndrome +
congenital contractural arachnodactyly
congenital diaphragmatic hernia +
congenital disorder of glycosylation +
congenital fibrosis of the extraocular muscles +
Congenital Foot Deformities +
congenital generalized lipodystrophy +
congenital granular cell tumor
congenital heart disease +
congenital hemolytic anemia +
congenital hereditary endothelial dystrophy of cornea
congenital hypogammaglobulinemia
congenital hypoplastic anemia +
congenital hypothyroidism +
congenital hypotrichosis with juvenile macular dystrophy
congenital intrinsic factor deficiency
congenital lactase deficiency
congenital leptin deficiency
congenital limbs-face contractures-hypotonia-developmental delay syndrome
congenital mesoblastic nephroma +
congenital mirror movement disorder +
congenital muscular dystrophy +
congenital myasthenic syndrome +
congenital nervous system abnormality +
congenital stationary night blindness +
congenital stromal corneal dystrophy
congenital structural myopathy +
congenital sucrase-isomaltase deficiency
Congenital Upper Extremity Deformities +
Craniomicromelic Syndrome
Diaphragmatic Defects, Limb Deficiencies, and Ossification Defects Of Skull
Distal Transverse Limb Defects with Mental Retardation and Spasticity
ENDOVE SYNDROME, LIMB-BRAIN TYPE
epidermolysis bullosa with congenital localized absence of skin and deformity of nails
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
Ichthyosis Tapered Fingers Midline Groove Up
Intellectual Developmental Disorder with Dysmorphic Facies, Seizures, and Distal Limb Anomalies
Kaplan Plauchu Fitch Syndrome
Kaufman oculocerebrofacial syndrome
large congenital melanocytic nevus
Laryngeal Atresia, Encephalocele, and Limb Deformities
Le Marec Bracq Picaud Syndrome
Leber congenital amaurosis +
lethal congenital contracture syndrome +
lethal congenital glycogen storage disease of heart
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 congenital anomalies-hypotonia-seizures syndrome +
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
non-congenital cyst of kidney
nonsyndromic congenital nail disorder +
Palant Cleft Palate Syndrome
palmoplantar keratoderma and congenital alopecia 1
palmoplantar keratoderma and congenital alopecia 2
polydactyly + A physical disorder that is characterized by the presence of more than five fingers per hand or five toes per foot. (DO)
postaxial acrofacial dysostosis
Powell Chandra Saal Syndrome
primary congenital glaucoma +
Radial Ray Deficiency, X-Linked
Radiohumeral Fusions with Other Skeletal and Craniofacial Anomalies
rapidly involuting congenital hemangioma
Reardon Hall Slaney syndrome
Renal Dysplasia - Limb Defects Syndrome
Ruzicka Goerz Anton syndrome
severe congenital encephalopathy due to MECP2 mutation
severe congenital neutropenia +
Short Stature-Obesity Syndrome
Silver-Russell 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
spondyloepiphyseal dysplasia with congenital joint dislocations
Stern Lubinsky Durrie Syndrome
syndromic microphthalmia 6
T-cell immunodeficiency, congenital alopecia, and nail dystrophy
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
Zika virus congenital syndrome
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