Lethal congenital contracture syndrome 2
Rare disease
Yes
- Definition
- Lethal congenital contracture syndrome type 2 is a rare arthrogryposis syndrome characterized by multiple congenital contactures (typically extended elbows and flexed knees), micrognathia, anterior horn cell degeneration, skeletal muscle atrophy (mainly in the lower limbs), presence of a markedly distended urinary bladder and absence of hydrops, pterygia and bone fractures. Other craniofacial (e.g. cleft palate, facial palsy) and ocular (e.g. anisocoria, retinal detachment) anomalies may be additionally observed. The disease is usually neonatally lethal however, survival into adolescence has been reported.
- Genetic basis
- Yes
- Non-human condition
- No
- Rare disease
- Yes
- Listing at source
- Listed
- Condition name
- Lethal congenital contracture syndrome 2
- lethal congenital contracture syndrome 2
- ERBB3 lethal congenital contracture syndrome
- LCCS2
- lethal congenital contractural syndrome 2
- lethal congenital contracture syndrome 2
- lethal congenital contracture syndrome caused by mutation in ERBB3
- lethal congenital contracture syndrome type 2
- multiple contracture syndrome, Israeli-Bedouin type
- multiple contracture syndrome, Israeli Bedouin type
- Severity
- Moderate
- Developmental
- Genetic
- Hereditary
- Syndromic
- MONDO ID
- MONDO:0011868
- Parent condition
- MONDO:0015161
Related records
Broader conditions (13)
- Arthrogryposis syndrome
- Congenital limb malformation
- Developmental defect during embryogenesis
- Disease
- Disease by developmental or physiological process
- Disease by etiologic mechanism
- Disease of genetic or genomic mechanism
- Disorder of development or morphogenesis
- Hereditary disease
- Human disease
- Lethal congenital contracture syndrome
- Multiple congenital anomalies/dysmorphic syndrome
- Multiple congenital anomalies/dysmorphic syndrome without intellectual disability
Trials (10)
- A Clinical Study to Test if an Investigational Treatment Called BNT326 is Safe and Potentially Beneficial When Used Alone or in Combination With Other Investigational Treatments Such as BNT327, for People With Advanced Malignant Tumors
- A Clinical Trial to Test if an Investigational Combination Therapy With BNT326 and BNT327 is Safe and Potentially Beneficial for People With Advanced Non-small Cell Lung Cancer (NSCLC)
- A Phase I/IIa Trial of HMBD-001 in Advanced HER3 Positive Solid Tumours
- A Study of MM-121 Combination Therapy in Patients With Advanced Non-Small Cell Lung Cancer
- A Study of Zenocutuzumab (MCLA-128) in Patients With Solid Tumors Harboring an NRG1 Fusion (eNRGy)
- Clinical Trial Evaluating the Safety, Tolerability and Preliminary Efficacy of BNT116 Alone and in Combinations in Patients With Advanced Non-small Cell Lung Cancer
- MCLA-128 With Trastuzumab/Chemotherapy in HER2+ and With Endocrine Therapy in ER+ and Low HER2 Breast Cancer.
- Molecular Features Predicting Response/Resistance to Trastuzumab in Metastatic Breast Cancer Patients
- Phase I Safety Study of the Drug MM-121 in Patients With Advanced Solid Tumors Resisting Ordinary Treatment
- Phase I Study of U3P1287/01, Including Patients With Advanced Solid Tumors