RLSDF
MCID: RHZ016
MIFTS: 20

Rhizomelic Limb Shortening with Dysmorphic Features (RLSDF)

Categories: Genetic diseases
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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 57 73 28 5 38
Rlsdf 57 73

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:



Summaries for Rhizomelic Limb Shortening with Dysmorphic Features

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.

Related Diseases for Rhizomelic Limb Shortening with Dysmorphic Features

Symptoms & Phenotypes for Rhizomelic Limb Shortening with Dysmorphic Features

Human phenotypes related to Rhizomelic Limb Shortening with Dysmorphic Features:

30 (show all 27)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macrocephaly 30 Very rare (1%) HP:0000256
2 short neck 30 Very rare (1%) HP:0000470
3 wide nasal bridge 30 Very rare (1%) HP:0000431
4 smooth philtrum 30 Very rare (1%) HP:0000319
5 prominent forehead 30 Very rare (1%) HP:0011220
6 micrognathia 30 Very rare (1%) HP:0000347
7 obesity 30 Very rare (1%) HP:0001513
8 arthralgia 30 Very rare (1%) HP:0002829
9 downslanted palpebral fissures 30 Very rare (1%) HP:0000494
10 laryngomalacia 30 Very rare (1%) HP:0001601
11 long philtrum 30 Very rare (1%) HP:0000343
12 patellar dislocation 30 Very rare (1%) HP:0002999
13 proptosis 30 Very rare (1%) HP:0000520
14 short thumb 30 Very rare (1%) HP:0009778
15 acanthosis nigricans 30 Very rare (1%) HP:0000956
16 plagiocephaly 30 Very rare (1%) HP:0001357
17 single transverse palmar crease 30 Very rare (1%) HP:0000954
18 rhizomelia 30 Very rare (1%) HP:0008905
19 short 5th finger 30 Very rare (1%) HP:0009237
20 brisk reflexes 30 Very rare (1%) HP:0001348
21 prominent fingertip pads 30 Very rare (1%) HP:0001212
22 patent foramen ovale 30 Very rare (1%) HP:0001655
23 limited shoulder movement 30 Very rare (1%) HP:0006467
24 delayed cns myelination 30 Very rare (1%) HP:0002188
25 hyperextensibility of the finger joints 30 Very rare (1%) HP:0001187
26 clinodactyly of the 3rd finger 30 Very rare (1%) HP:0040024
27 stage 1 chronic kidney disease 30 Very rare (1%) HP:0012623

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Head And Neck Head:
macrocephaly

Head And Neck Neck:
short neck
branchial cleft defect

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 Central Nervous System:
delayed myelination, mild
hypotonia, central

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

Genitourinary Kidneys:
stage 1 renal disease, chronic

Skeletal Skull:
macrocephaly
plagiocephaly, mild

Head And Neck Nose:
depressed nasal bridge
broad nasal bridge

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 Peripheral Nervous System:
brisk deep tendon reflexes

Abdomen Gastrointestinal:
polypoid anal mass

Clinical features from OMIM®:

618821 (Updated 08-Dec-2022)

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

Genetic tests related to Rhizomelic Limb Shortening with Dysmorphic Features:

# Genetic test Affiliating Genes
1 Rhizomelic Limb Shortening with Dysmorphic Features 28 PKDCC

Anatomical Context for Rhizomelic Limb Shortening with Dysmorphic Features

Organs/tissues related to Rhizomelic Limb Shortening with Dysmorphic Features:

MalaCards : Kidney
ODiseA: Kidney

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. 57 5
30478137 2019

Variations for Rhizomelic Limb Shortening with Dysmorphic Features

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

5
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PKDCC NM_138370.3(PKDCC):c.651C>A (p.Tyr217Ter) SNV Pathogenic
521769 rs761532715 GRCh37: 2:42280390-42280390
GRCh38: 2:42053250-42053250
2 PKDCC NM_138370.3(PKDCC):c.639+1G>T SNV Pathogenic
522098 rs763243200 GRCh37: 2:42275979-42275979
GRCh38: 2:42048839-42048839
3 PKDCC NM_138370.3(PKDCC):c.939dup (p.Leu314fs) DUP Pathogenic
1727206 GRCh37: 2:42281351-42281352
GRCh38: 2:42054211-42054212
4 PKDCC NM_138370.3(PKDCC):c.1127G>A (p.Trp376Ter) SNV Likely Pathogenic
1334386 GRCh37: 2:42282438-42282438
GRCh38: 2:42055298-42055298
5 PKDCC NM_138370.3(PKDCC):c.325T>C (p.Ser109Pro) SNV Benign
1327044 GRCh37: 2:42275664-42275664
GRCh38: 2:42048524-42048524
6 PKDCC NM_138370.3(PKDCC):c.387C>G (p.Arg129=) SNV Benign
1327045 GRCh37: 2:42275726-42275726
GRCh38: 2:42048586-42048586
7 PKDCC NM_138370.3(PKDCC):c.480T>C (p.Gly160=) SNV Benign
1327046 GRCh37: 2:42275819-42275819
GRCh38: 2:42048679-42048679

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

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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