MDFPMR
MCID: MCR321
MIFTS: 21

Macrocephaly, Dysmorphic Facies, and Psychomotor Retardation (MDFPMR)

Categories: Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Macrocephaly, Dysmorphic Facies, and Psychomotor Retardation

MalaCards integrated aliases for Macrocephaly, Dysmorphic Facies, and Psychomotor Retardation:

Name: Macrocephaly, Dysmorphic Facies, and Psychomotor Retardation 57 75 29 6
Mdfpmr 57 75
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome 59

Characteristics:

Orphanet epidemiological data:

59
megalencephaly-severe kyphoscoliosis-overgrowth syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset at birth


HPO:

32
macrocephaly, dysmorphic facies, and psychomotor retardation:
Onset and clinical course congenital onset
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Macrocephaly, Dysmorphic Facies, and Psychomotor Retardation

OMIM : 57 Macrocephaly, dysmorphic facies, and psychomotor retardation (MDFPMR) is an autosomal recessive neurodevelopmental disorder characterized by large head and somatic overgrowth apparent at birth followed by global developmental delay. Affected individuals have characteristic dysmorphic facial features and persistently large head, but increased birth weight normalizes with age. Additional neurologic features, including seizures, hypotonia, and gait ataxia, may also occur. Patients show severe intellectual impairment (summary by Ortega-Recalde et al., 2015). (617011)

MalaCards based summary : Macrocephaly, Dysmorphic Facies, and Psychomotor Retardation, is also known as mdfpmr. An important gene associated with Macrocephaly, Dysmorphic Facies, and Psychomotor Retardation is HERC1 (HECT And RLD Domain Containing E3 Ubiquitin Protein Ligase Family Member 1). Affiliated tissues include bone, and related phenotypes are macrocephaly and malar flattening

UniProtKB/Swiss-Prot : 75 Macrocephaly, dysmorphic facies, and psychomotor retardation: An autosomal recessive syndrome characterized by large head and somatic overgrowth, intellectual disability, and facial dysmorphism. Seizures, hypotonia and ataxic gait are observed in some patients.

Related Diseases for Macrocephaly, Dysmorphic Facies, and Psychomotor Retardation

Symptoms & Phenotypes for Macrocephaly, Dysmorphic Facies, and Psychomotor Retardation

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Head:
macrocephaly

Head And Neck Ears:
low-set ears
macrotia
posteriorly rotated ears
large ears

Neurologic Central Nervous System:
intellectual disability
megalencephaly
global developmental delay
ventriculomegaly
ataxic gait
more
Skeletal:
joint laxity
joint limitation
normal bone age

Skeletal Hands:
arachnodactyly
large hands

Head And Neck Neck:
long neck

Muscle Soft Tissue:
hypotonia

Growth Weight:
increased birth weight

Growth Other:
somatic overgrowth apparent since birth
asthenic habitus as adult

Skeletal Limbs:
elongated limbs

Head And Neck Eyes:
hypertelorism
proptosis
downslanting palpebral fissures
upslanting palpebral fissures
sparse eyebrows

Head And Neck Face:
frontal bossing
prominent forehead
long face
triangular face
prognathism
more
Skeletal Spine:
scoliosis
kyphosis
lordosis

Head And Neck Nose:
prominent nasal bridge

Growth Height:
tall stature

Skeletal Feet:
flat feet
large feet

Head And Neck Mouth:
high-arched palate

Neurologic Behavioral Psychiatric Manifestations:
poor social interaction

Chest External Features:
asymmetric thorax


Clinical features from OMIM:

617011

Human phenotypes related to Macrocephaly, Dysmorphic Facies, and Psychomotor Retardation:

32 (show all 39)
# Description HPO Frequency HPO Source Accession
1 macrocephaly 32 HP:0000256
2 malar flattening 32 HP:0000272
3 hypertelorism 32 HP:0000316
4 low-set ears 32 HP:0000369
5 frontal bossing 32 HP:0002007
6 high palate 32 HP:0000218
7 hydrocephalus 32 occasional (7.5%) HP:0000238
8 intellectual disability 32 HP:0001249
9 seizures 32 occasional (7.5%) HP:0001250
10 megalencephaly 32 HP:0001355
11 scoliosis 32 HP:0002650
12 kyphosis 32 HP:0002808
13 hyperlordosis 32 HP:0003307
14 mandibular prognathia 32 HP:0000303
15 macrotia 32 HP:0000400
16 global developmental delay 32 HP:0001263
17 pes planus 32 HP:0001763
18 prominent forehead 32 HP:0011220
19 absent speech 32 HP:0001344
20 gait ataxia 32 HP:0002066
21 ventriculomegaly 32 HP:0002119
22 cerebral cortical atrophy 32 occasional (7.5%) HP:0002120
23 joint laxity 32 HP:0001388
24 prominent nasal bridge 32 HP:0000426
25 arachnodactyly 32 HP:0001166
26 downslanted palpebral fissures 32 HP:0000494
27 upslanted palpebral fissure 32 HP:0000582
28 long face 32 HP:0000276
29 proptosis 32 HP:0000520
30 triangular face 32 HP:0000325
31 cerebellar atrophy 32 occasional (7.5%) HP:0001272
32 large hands 32 HP:0001176
33 tall stature 32 HP:0000098
34 generalized hypotonia 32 HP:0001290
35 sparse eyebrow 32 HP:0045075
36 posteriorly rotated ears 32 HP:0000358
37 long neck 32 HP:0000472
38 long foot 32 HP:0001833
39 thick corpus callosum 32 occasional (7.5%) HP:0007074

Drugs & Therapeutics for Macrocephaly, Dysmorphic Facies, and Psychomotor Retardation

Search Clinical Trials , NIH Clinical Center for Macrocephaly, Dysmorphic Facies, and Psychomotor Retardation

Genetic Tests for Macrocephaly, Dysmorphic Facies, and Psychomotor Retardation

Genetic tests related to Macrocephaly, Dysmorphic Facies, and Psychomotor Retardation:

# Genetic test Affiliating Genes
1 Macrocephaly, Dysmorphic Facies, and Psychomotor Retardation 29 HERC1

Anatomical Context for Macrocephaly, Dysmorphic Facies, and Psychomotor Retardation

MalaCards organs/tissues related to Macrocephaly, Dysmorphic Facies, and Psychomotor Retardation:

41
Bone

Publications for Macrocephaly, Dysmorphic Facies, and Psychomotor Retardation

Variations for Macrocephaly, Dysmorphic Facies, and Psychomotor Retardation

UniProtKB/Swiss-Prot genetic disease variations for Macrocephaly, Dysmorphic Facies, and Psychomotor Retardation:

75
# Symbol AA change Variation ID SNP ID
1 HERC1 p.Gly4520Glu VAR_076995 rs769677823

ClinVar genetic disease variations for Macrocephaly, Dysmorphic Facies, and Psychomotor Retardation:

6 (show all 12)
# Gene Variation Type Significance SNP ID Assembly Location
1 HERC1 NM_003922.3(HERC1): c.9748C> T (p.Arg3250Ter) single nucleotide variant Pathogenic rs753780877 GRCh37 Chromosome 15, 63948409: 63948409
2 HERC1 NM_003922.3(HERC1): c.9748C> T (p.Arg3250Ter) single nucleotide variant Pathogenic rs753780877 GRCh38 Chromosome 15, 63656210: 63656210
3 HERC1 NM_003922.3(HERC1): c.4906-2A> C single nucleotide variant Likely pathogenic rs797045141 GRCh38 Chromosome 15, 63696341: 63696341
4 HERC1 NM_003922.3(HERC1): c.4906-2A> C single nucleotide variant Likely pathogenic rs797045141 GRCh37 Chromosome 15, 63988540: 63988540
5 HERC1 NM_003922.3(HERC1): c.2625G> A (p.Trp875Ter) single nucleotide variant Pathogenic rs879253786 GRCh37 Chromosome 15, 64026944: 64026944
6 HERC1 NM_003922.3(HERC1): c.2625G> A (p.Trp875Ter) single nucleotide variant Pathogenic rs879253786 GRCh38 Chromosome 15, 63734745: 63734745
7 HERC1 NM_003922.3(HERC1): c.13559G> A (p.Gly4520Glu) single nucleotide variant Pathogenic rs769677823 GRCh38 Chromosome 15, 63623777: 63623777
8 HERC1 NM_003922.3(HERC1): c.13559G> A (p.Gly4520Glu) single nucleotide variant Pathogenic rs769677823 GRCh37 Chromosome 15, 63915976: 63915976
9 HERC1 NM_003922.3(HERC1): c.3374G> A (p.Gly1125Asp) single nucleotide variant Uncertain significance rs80203202 GRCh37 Chromosome 15, 64017685: 64017685
10 HERC1 NM_003922.3(HERC1): c.3374G> A (p.Gly1125Asp) single nucleotide variant Uncertain significance rs80203202 GRCh38 Chromosome 15, 63725486: 63725486
11 HERC1 NM_003922.3(HERC1): c.3021+6C> T single nucleotide variant Uncertain significance rs368315540 GRCh38 Chromosome 15, 63729491: 63729491
12 HERC1 NM_003922.3(HERC1): c.3021+6C> T single nucleotide variant Uncertain significance rs368315540 GRCh37 Chromosome 15, 64021690: 64021690

Expression for Macrocephaly, Dysmorphic Facies, and Psychomotor Retardation

Search GEO for disease gene expression data for Macrocephaly, Dysmorphic Facies, and Psychomotor Retardation.

Pathways for Macrocephaly, Dysmorphic Facies, and Psychomotor Retardation

GO Terms for Macrocephaly, Dysmorphic Facies, and Psychomotor Retardation

Sources for Macrocephaly, Dysmorphic Facies, and Psychomotor Retardation

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....