A rare multiple congenital syndrome characterized primarily by growth retardation, microcephaly, distinctive facial dysmorphism, cutaneous eczema, a mild to severe intellectual deficit and genital abn...
Comprehensive, easy-to-understand information about this condition
How we create this content →Helpful links for rare disease information and support
Questions that may be helpful when speaking with your healthcare team
Helpful links for rare disease information and support
Questions that may be helpful when speaking with your healthcare team
Helpful links for rare disease information and support
Questions that may be helpful when speaking with your healthcare team
Inheritance patterns describe how genetic conditions are passed from parents to children.
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center
AI-Generated Content: This summary was generated using AI. Always consult with qualified healthcare providers for medical guidance.
Kisho delivers this disease record via API, including phenotypes (HPO), genes, orphan drug designations, screening status, and PAG mapping, with version history and governance.
Organizations with orphan designations or approved therapies for this disease
AbbVie Inc.
Other
AlaMab Therapeutics, Inc.
Other
Amphix Bio
Other
Ascendis Pharma Bone Diseases A/S
Other
Jazz Pharmaceuticals Ireland Limited
Other
Kringle Pharma, Inc.
Other
Lineage Cell Therapeutics, Inc.
Other
Novartis Pharmaceuticals Corporation
Other
NurExone Biologic, Ltd.
Other
Orbona Pharma Ltd
Other
Pfizer, Inc.
Other
Remedy Pharmaceuticals, Inc.
Other
Servier Pharmaceuticals LLC
Other
Silvergate Pharmaceuticals, Inc.
Other
TRB Chemedica International S.A.
Other
Valeant Pharmaceuticals International, Inc.
Other
Vertex Pharmaceuticals Incorporated
Other