SE-ATLAS

Mapping of Health Care Providers
for People with Rare Diseases


In the following you will find the diseases that are treated in this facility:
22q11.2 deletion syndrome Acrocephalopolydactyly Acrocephalosyndactyly Acromelic frontonasal dysplasia Aminopterin/methotrexate embryofetopathy Antley-Bixler syndrome Apert syndrome Atelosteogenesis type I Atelosteogenesis type II Atelosteogenesis type III Autosomal dominant otospondylomegaepiphyseal dysplasia Autosomal recessive Stickler syndrome Baller-Gerold syndrome C syndrome Cantú syndrome Cardiocranial syndrome, Pfeiffer type Carpenter syndrome Cloverleaf skull-asphyxiating thoracic dysplasia syndrome Cloverleaf skull-multiple congenital anomalies syndrome Cocaine embryofetopathy Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency Cornelia de Lange syndrome Cranioectodermal dysplasia Craniofaciofrontodigital syndrome Craniofrontonasal dysplasia Craniofrontonasal dysplasia-Poland anomaly syndrome 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 syndrome Crouzon syndrome-acanthosis nigricans syndrome Curry-Jones syndrome Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome Diabetic embryopathy Dobrow syndrome Dysostosis with predominant craniofacial involvement Familial lambdoid synostosis Familial osteodysplasia, Anderson type Familial scaphocephaly syndrome Familial scaphocephaly syndrome, McGillivray type Fetal alcohol syndrome Fetal hydantoin syndrome Fetal iodine syndrome Fetal methylmercury syndrome Fetal minoxidil syndrome Fetal parvovirus syndrome Fetal trimethadione syndrome Fetal valproate spectrum disorder Fragile X syndrome Frontofacionasal dysplasia Frontonasal dysplasia Frontonasal dysplasia-alopecia-genital anomalies syndrome Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome Frontorhiny Goldenhar syndrome Goodman syndrome Holoprosencephaly-craniosynostosis syndrome Hunter-McAlpine syndrome Indomethacin embryofetopathy Intellectual disability-brachydactyly-Pierre Robin syndrome Isolated Pierre Robin syndrome Isolated cloverleaf skull syndrome Isolated encephalocele Isolated oxycephaly Isolated plagiocephaly Isotretinoin syndrome Jackson-Weiss syndrome Kabuki syndrome Kniest dysplasia Lethal occipital encephalocele-skeletal dysplasia syndrome Lowry-MacLean syndrome Mandibulofacial dysostosis-macroblepharon-macrostomia syndrome Maternal hyperthermia-induced birth defects Maternal phenylketonuria Methimazole embryofetopathy Muenke syndrome Multiple synostoses syndrome Nager syndrome Nasal encephalocele Non-syndromic bicoronal craniosynostosis Non-syndromic bilambdoid and sagittal craniosynostosis Non-syndromic craniosynostosis Non-syndromic metopic craniosynostosis Non-syndromic sagittal craniosynostosis Oculoauriculofrontonasal syndrome Oculoauriculovertebral spectrum with radial defects Oculomaxillofacial dysostosis Osteosclerosis-developmental delay-craniosynostosis syndrome Pai syndrome Pfeiffer syndrome Pfeiffer syndrome type 1 Pfeiffer syndrome type 2 Pfeiffer syndrome type 3 Phenobarbital embryopathy Pierre Robin syndrome associated with a chromosomal anomaly Pierre Robin syndrome associated with bone disease Pierre Robin syndrome associated with branchial archs anomalies Pierre Robin syndrome associated with collagen disease Pseudoaminopterin syndrome Rare disease with Pierre Robin syndrome Rare maxillo-facial surgical disease Rare neoplastic disease Rare otorhinolaryngologic disease Rare sucking/swallowing disorder SCARF syndrome SPECC1L-related hypertelorism syndrome Saethre-Chotzen syndrome Shprintzen-Goldberg syndrome Smith-Lemli-Opitz syndrome Smith-Magenis syndrome Stickler syndrome Stickler syndrome type 1 Stickler syndrome type 2 Summitt syndrome Syndromic craniosynostosis TARP syndrome Teebi-Shaltout syndrome Teratogenic Pierre Robin syndrome Toluene embryopathy Treacher-Collins syndrome Trigonocephaly-broad thumbs syndrome Trigonocephaly-short stature-developmental delay syndrome Vitamin K antagonist embryofetopathy Waardenburg syndrome X-linked intellectual disability-plagiocephaly syndrome