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 Acrodysostosis Acrodysostosis with multiple hormone resistance Acromelic frontonasal dysplasia Antley-Bixler syndrome Apert syndrome Auriculocondylar syndrome Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome Autosomal recessive Stickler syndrome BOR syndrome Baller-Gerold syndrome Basal encephalocele Bifid uvula C syndrome Cantú syndrome Cardiocranial syndrome, Pfeiffer type Carpenter syndrome Cleft hard palate Cleft lip/palate Cleft palate Cleft velum Cloverleaf skull-asphyxiating thoracic dysplasia syndrome Cloverleaf skull-multiple congenital anomalies syndrome Contractures-developmental delay-Pierre Robin syndrome Cranioectodermal dysplasia Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome Craniofaciofrontodigital syndrome Craniofrontonasal dysplasia Craniofrontonasal dysplasia-Poland anomaly syndrome Craniomicromelic syndrome Craniosynostosis, Boston type Craniosynostosis, Herrmann-Opitz type Craniosynostosis, Philadelphia type Craniosynostosis-anal anomalies-porokeratosis syndrome Craniosynostosis-cataract syndrome Craniosynostosis-dental anomalies 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 Dobrow syndrome Dysostosis with predominant craniofacial involvement FGFR2-related bent bone dysplasia Familial lambdoid synostosis Familial osteodysplasia, Anderson type Familial scaphocephaly syndrome Frontal encephalocele 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 Intellectual disability-brachydactyly-Pierre Robin syndrome Isolated Pierre Robin syndrome Isolated cleft lip Isolated cloverleaf skull syndrome Isolated encephalocele Isolated oxycephaly Isolated plagiocephaly Jackson-Weiss syndrome Lambert syndrome Lethal occipital encephalocele-skeletal dysplasia syndrome Lowry-MacLean syndrome Mandibulofacial dysostosis Mandibulofacial dysostosis with alopecia Mandibulofacial dysostosis-macroblepharon-macrostomia syndrome Muenke 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 Occipital encephalocele Oculo-auriculo-vertebral spectrum Oculoauriculofrontonasal syndrome Oculoauriculovertebral spectrum with radial defects Oculomaxillofacial dysostosis Oral-facial-digital syndrome with short stature and brachymesophalangy Orofaciodigital syndrome Orofaciodigital syndrome type 1 Orofaciodigital syndrome type 10 Orofaciodigital syndrome type 11 Orofaciodigital syndrome type 12 Orofaciodigital syndrome type 13 Orofaciodigital syndrome type 14 Orofaciodigital syndrome type 2 Orofaciodigital syndrome type 3 Orofaciodigital syndrome type 4 Orofaciodigital syndrome type 5 Orofaciodigital syndrome type 6 Orofaciodigital syndrome type 8 Orofaciodigital syndrome type 9 Osteosclerosis-developmental delay-craniosynostosis syndrome Otomandibular dysplasia Otomandibular dysplasia associated with monogenic syndromes Otomandibular syndrome Pai syndrome Parietal encephalocele Pfeiffer syndrome Pfeiffer syndrome type 1 Pfeiffer syndrome type 2 Pfeiffer syndrome type 3 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 SCARF syndrome SIX2-related frontonasal dysplasia SPECC1L-related hypertelorism syndrome Saethre-Chotzen syndrome Shprintzen-Goldberg syndrome Stickler syndrome Stickler syndrome type 1 Stickler syndrome type 2 Submucosal cleft palate Summitt syndrome Syndromic craniosynostosis TARP syndrome Teebi-Shaltout syndrome Teratogenic Pierre Robin syndrome Townes-Brocks syndrome Treacher-Collins syndrome Trigonocephaly-broad thumbs syndrome Trigonocephaly-short stature-developmental delay syndrome Weiss-Kruszka Syndrome X-linked intellectual disability-plagiocephaly syndrome