RLSDF
MCID: RHZ016
MIFTS: 20
|
Rhizomelic Limb Shortening with Dysmorphic Features (RLSDF)
Categories:
Genetic diseases
|
|
|
MalaCards integrated aliases for Rhizomelic Limb Shortening with Dysmorphic Features:Characteristics:Inheritance:
Autosomal recessive 57
OMIM®:57 (Updated 08-Dec-2022)
Miscellaneous:
based on report of 2 unrelated patients (last curated march 2020) aside from rhizomelic limb shortening and obesity, other features are variable Classifications: |
OMIM®: 57 Rhizomelic limb shortening with dysmorphic features (RLSDF) is characterized by rhizomelic shortening of upper and lower extremities and variable dysmorphic features, including macrocephaly, prominent forehead, depressed or broad nasal bridge, and micrognathia (Sajan et al., 2019). (618821) (Updated 08-Dec-2022) MalaCards based summary: Rhizomelic Limb Shortening with Dysmorphic Features, is also known as rlsdf. An important gene associated with Rhizomelic Limb Shortening with Dysmorphic Features is PKDCC (Protein Kinase Domain Containing, Cytoplasmic). Affiliated tissues include kidney, and related phenotypes are macrocephaly and short neck UniProtKB/Swiss-Prot: 73 An autosomal recessive skeletal dysplasia characterized by rhizomelic shortening of limbs as well as variable dysmorphic features, including macrocephaly, short neck, micrognathia, mild proptosis, downslanting palpebral fissures, depressed or broad nasal bridge and long philtrum. |
|
Human phenotypes related to Rhizomelic Limb Shortening with Dysmorphic Features:30 (show all 27)
Symptoms via clinical synopsis from OMIM®:57 (Updated 08-Dec-2022)Clinical features from OMIM®:618821 (Updated 08-Dec-2022) |
|
Organs/tissues related to Rhizomelic Limb Shortening with Dysmorphic Features:
MalaCards :
Kidney
|
Articles related to Rhizomelic Limb Shortening with Dysmorphic Features:
|
ClinVar genetic disease variations for Rhizomelic Limb Shortening with Dysmorphic Features:5
|
Search
GEO
for disease gene expression data for Rhizomelic Limb Shortening with Dysmorphic Features.
|
|
|