Knowledge on rare diseases and orphan drugs
COVID-19 & Rare diseases
Rare Diseases Resources for Refugees/Displaced Persons
Homepage > Rare diseases > Search
Search for a rare disease
Diaphragmatic defect-limb deficiency-skull defect syndrome
Suggest an update
Your message has been sent
Your message has not been sent. Please contact an administrator.
Disease definition
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by diaphragmatic hernia, lung hypoplasia, ossification defect of the skull, and severe limb hypoplasia. Other clinical features may include, syndactyly, clinodactyly, extra spleen, absence of the femur or pelvic bone, partial intestinal malrotation, omphalocele and testicular atrophy.
ORPHA:2141
A summary on this disease is available in
Français,
Español,
Deutsch,
Italiano,
Português,
Nederlands,
Polski
Detailed information
: produced/endorsed by ERN(s)
: produced/endorsed by FSMR(s)
Guidelines
Emergency guidelines
Additional information
Further information on this disease
Patient-centred resources for this disease
Research activities on this disease
Newborn screening
The documents contained in this website are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.