Mapping of Health Care Providers
for People with Rare Diseases

In the following you will find the diseases that are treated in this facility:
Acrocephalopolydactyly Acrocephalosyndactyly Acropectorovertebral dysplasia Anorectal malformation Antley-Bixler syndrome Apert syndrome Atresia of small intestine Baller-Gerold syndrome C syndrome Cardiocranial syndrome, Pfeiffer type Carpenter syndrome Celosomia Cloverleaf skull-asphyxiating thoracic dysplasia syndrome Cloverleaf skull-multiple congenital anomalies syndrome Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency Congenital diaphragmatic hernia Congenital lobar emphysema Congenital pulmonary airway malformation type 0 Congenitally short costocoracoid ligament Cranioectodermal dysplasia Craniolenticulosutural dysplasia Craniomicromelic syndrome Craniosynostosis Craniosynostosis, Boston type Craniosynostosis, Herrmann-Opitz type Craniosynostosis, Philadelphia type Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome Craniosynostosis-anal anomalies-porokeratosis syndrome Craniosynostosis-cataract syndrome Craniosynostosis-dental anomalies Craniosynostosis-dysmorphism-brachydactyly syndrome Craniosynostosis-fibular aplasia syndrome Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome Craniosynostosis-intracranial calcifications syndrome Craniotelencephalic dysplasia Crouzon disease Crouzon syndrome-acanthosis nigricans syndrome Curry-Jones syndrome Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome Cystic fibrosis-gastritis-megaloblastic anemia syndrome Duodenal atresia Ellis Van Creveld syndrome Esophageal atresia Familial lambdoid synostosis Familial scaphocephaly syndrome Familial scaphocephaly syndrome, McGillivray type Fetal akinesia deformation sequence Genetic gastro-esophageal disease Goodman syndrome Hepatoblastoma Hereditary diffuse gastric cancer Hirschsprung disease Holoprosencephaly-craniosynostosis syndrome Hunter-McAlpine craniosynostosis Idiopathic achalasia Interdigitating dendritic cell sarcoma Isolated anorectal malformation Isolated brachycephaly Isolated cloverleaf skull syndrome Isolated craniosynostosis Isolated oxycephaly Isolated plagiocephaly Isolated scaphocephaly Isolated trigonocephaly Jackson-Weiss syndrome Jeune syndrome Joubert syndrome with Jeune asphyxiating thoracic dystrophy Lethal congenital contracture syndrome type 1 Lethal occipital encephalocele-skeletal dysplasia syndrome Lowry-MacLean syndrome Matthew-Wood syndrome Muenke syndrome Myelomeningocele Neuroblastoma Normal pressure hydrocephalus Omphalocele Orofaciodigital syndrome type 4 Ossification anomalies-psychomotor developmental delay syndrome Osteosclerosis-developmental delay-craniosynostosis syndrome Palmoplantar keratoderma-esophageal carcinoma syndrome Perlman syndrome Pfeiffer syndrome Pfeiffer syndrome type 1 Pfeiffer syndrome type 2 Pfeiffer syndrome type 3 Pseudoaminopterin syndrome Renal dysplasia Renal dysplasia, bilateral Renal dysplasia, unilateral SCARF syndrome Saethre-Chotzen syndrome Secondary short bowel syndrome Short rib-polydactyly syndrome Short rib-polydactyly syndrome, Beemer-Langer type Short rib-polydactyly syndrome, Majewski type Short rib-polydactyly syndrome, Saldino-Noonan type Short rib-polydactyly syndrome, Verma-Naumoff type Shoulder and thorax deformity-congenital heart disease syndrome Shprintzen-Goldberg syndrome Spina bifida-hypospadias syndrome Sprengel deformity Sternal cleft Summitt syndrome Syndromic anorectal malformation Syndromic craniosynostosis Thoracic malformation Thoracolaryngopelvic dysplasia Thoracomelic dysplasia Trigonocephaly-broad thumbs syndrome Trigonocephaly-short stature-developmental delay syndrome X-linked intellectual disability-plagiocephaly syndrome