RLSDF
MCID: RHZ016
MIFTS: 13

Rhizomelic Limb Shortening with Dysmorphic Features (RLSDF)

Categories: Genetic diseases

Aliases & Classifications for Rhizomelic Limb Shortening with Dysmorphic Features

MalaCards integrated aliases for Rhizomelic Limb Shortening with Dysmorphic Features:

Name: Rhizomelic Limb Shortening with Dysmorphic Features 56 6
Rlsdf 56

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
based on report of 2 unrelated patients (last curated march 2020)
aside from rhizomelic limb shortening and obesity, other features are variable


Classifications:



External Ids:

OMIM 56 618821

Summaries for Rhizomelic Limb Shortening with Dysmorphic Features

OMIM : 56 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)

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 bone.

Related Diseases for Rhizomelic Limb Shortening with Dysmorphic Features

Symptoms & Phenotypes for Rhizomelic Limb Shortening with Dysmorphic Features

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Nose:
depressed nasal bridge
broad nasal bridge

Head And Neck Head:
macrocephaly

Head And Neck Face:
smooth philtrum
prominent forehead
micrognathia
long philtrum

Respiratory Larynx:
laryngomalacia

Cardiovascular Heart:
patent foramen ovale
tricuspid regurgitation, mild

Skeletal Hands:
hyperextensible fingers
short thumbs
chronic joint pain
short fifth fingers bilaterally

Neurologic Peripheral Nervous System:
brisk deep tendon reflexes

Head And Neck Ears:
hearing loss, conductive (bilateral mild)

Genitourinary Kidneys:
stage 1 renal disease, chronic

Head And Neck Neck:
short neck
branchial cleft defect

Skeletal Skull:
macrocephaly
plagiocephaly, mild

Growth Weight:
obesity

Skin Nails Hair Skin:
acanthosis nigricans
prominent fingertip pads
palmar crease, unilateral

Head And Neck Eyes:
downslanting palpebral fissures
proptosis, mild

Skeletal Limbs:
chronic joint pain
hypoplastic distal ulna
rhizomelic shortening of long bones
mesomelic shortening of long bones
juvenile idiopathic arthritis
more
Neurologic Central Nervous System:
delayed myelination, mild
hypotonia, central

Abdomen Gastrointestinal:
polypoid anal mass

Clinical features from OMIM:

618821

Drugs & Therapeutics for Rhizomelic Limb Shortening with Dysmorphic Features

Search Clinical Trials , NIH Clinical Center for Rhizomelic Limb Shortening with Dysmorphic Features

Genetic Tests for Rhizomelic Limb Shortening with Dysmorphic Features

Anatomical Context for Rhizomelic Limb Shortening with Dysmorphic Features

MalaCards organs/tissues related to Rhizomelic Limb Shortening with Dysmorphic Features:

40
Bone

Publications for Rhizomelic Limb Shortening with Dysmorphic Features

Articles related to Rhizomelic Limb Shortening with Dysmorphic Features:

# Title Authors PMID Year
1
Biallelic disruption of PKDCC is associated with a skeletal disorder characterised by rhizomelic shortening of extremities and dysmorphic features. 6 56
30478137 2019

Variations for Rhizomelic Limb Shortening with Dysmorphic Features

ClinVar genetic disease variations for Rhizomelic Limb Shortening with Dysmorphic Features:

6 ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 PKDCC NM_138370.3(PKDCC):c.639+1G>TSNV Likely pathogenic 522098 rs763243200 2:42275979-42275979 2:42048839-42048839
2 PKDCC NM_138370.3(PKDCC):c.651C>A (p.Tyr217Ter)SNV Likely pathogenic 521769 rs761532715 2:42280390-42280390 2:42053250-42053250

Expression for Rhizomelic Limb Shortening with Dysmorphic Features

Search GEO for disease gene expression data for Rhizomelic Limb Shortening with Dysmorphic Features.

Pathways for Rhizomelic Limb Shortening with Dysmorphic Features

GO Terms for Rhizomelic Limb Shortening with Dysmorphic Features

Sources for Rhizomelic Limb Shortening with Dysmorphic Features

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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