MCID: CLF048
MIFTS: 20

Cleft Palate, Psychomotor Retardation, and Distinctive Facial Features

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

Aliases & Classifications for Cleft Palate, Psychomotor Retardation, and Distinctive Facial...

MalaCards integrated aliases for Cleft Palate, Psychomotor Retardation, and Distinctive Facial Features:

Name: Cleft Palate, Psychomotor Retardation, and Distinctive Facial Features 57 75 29 6
Cprf 57 75
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome 59
Palatal Anomalies-Multiple Diastemata-Facial Dysmorphism-Developmental Delay Syndrome 59

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
de novo mutation
three patients have been described (last curated january 2016)


HPO:

32
cleft palate, psychomotor retardation, and distinctive facial features:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Cleft Palate, Psychomotor Retardation, and Distinctive Facial...

UniProtKB/Swiss-Prot : 75 Cleft palate, psychomotor retardation, and distinctive facial features: A syndrome characterized by cleft palate, developmental delay, psychomotor retardation, and facial dysmorphic features including a prominent forehead, slightly arched eyebrows, elongated palpebral fissures, a wide nasal bridge, thin lips, and widely spaced teeth. Cleft palate is a congenital fissure of the soft and/or hard palate, due to faulty fusion.

MalaCards based summary : Cleft Palate, Psychomotor Retardation, and Distinctive Facial Features, is also known as cprf. An important gene associated with Cleft Palate, Psychomotor Retardation, and Distinctive Facial Features is KDM1A (Lysine Demethylase 1A). Related phenotypes are macrocephaly and frontal bossing

Description from OMIM: 616728

Related Diseases for Cleft Palate, Psychomotor Retardation, and Distinctive Facial...

Symptoms & Phenotypes for Cleft Palate, Psychomotor Retardation, and Distinctive Facial...

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Face:
frontal bossing
prominent forehead

Head And Neck Nose:
wide nasal bridge

Skeletal Skull:
brachycephaly

Neurologic Central Nervous System:
delayed myelination
developmental delay
hypotonia
speech delay
macrocerebellum
more
Skeletal Hands:
fifth finger clinodactyly
short thumbs
tapered fingers

Growth Weight:
short stature (in some patients)
birth weight greater than 97%

Growth Height:
birth length greater than 90%

Chest Breasts:
supernumerary nipple (in some patients)

Head And Neck Teeth:
widely spaced teeth

Head And Neck Head:
brachycephaly
macrocephaly (in some patients)

Skeletal Feet:
hypoplastic toenails
calcaneal valgus

Head And Neck Eyes:
downslanting palpebral fissures
exotropia (in some patients)
arched eyebrows
synophrys (in some patients)

Head And Neck Mouth:
thin upper lip
palatal anomalies

GenitourinaryInternal GenitaliaMale:
cryptorchidism (in some patients)

Head And Neck Ears:
small, low-set ears (in some patients)


Clinical features from OMIM:

616728

Human phenotypes related to Cleft Palate, Psychomotor Retardation, and Distinctive Facial Features:

32 (show all 38)
# Description HPO Frequency HPO Source Accession
1 macrocephaly 32 very rare (1%) HP:0000256
2 frontal bossing 32 HP:0002007
3 ptosis 32 very rare (1%) HP:0000508
4 constipation 32 very rare (1%) HP:0002019
5 widely spaced teeth 32 very rare (1%) HP:0000687
6 global developmental delay 32 very rare (1%) HP:0001263
7 wide nasal bridge 32 very rare (1%) HP:0000431
8 delayed speech and language development 32 very rare (1%) HP:0000750
9 abnormal vertebral morphology 32 HP:0003468
10 anteverted nares 32 very rare (1%) HP:0000463
11 short stature 32 very rare (1%) HP:0004322
12 brachycephaly 32 very rare (1%) HP:0000248
13 prominent forehead 32 very rare (1%) HP:0011220
14 feeding difficulties 32 very rare (1%) HP:0011968
15 cryptorchidism 32 very rare (1%) HP:0000028
16 hypoplastic toenails 32 very rare (1%) HP:0001800
17 clinodactyly of the 5th finger 32 very rare (1%) HP:0004209
18 joint hypermobility 32 very rare (1%) HP:0001382
19 downslanted palpebral fissures 32 very rare (1%) HP:0000494
20 downturned corners of mouth 32 very rare (1%) HP:0002714
21 thin upper lip vermilion 32 very rare (1%) HP:0000219
22 highly arched eyebrow 32 HP:0002553
23 synophrys 32 occasional (7.5%) HP:0000664
24 blue sclerae 32 very rare (1%) HP:0000592
25 tapered finger 32 HP:0001182
26 motor delay 32 HP:0001270
27 oculomotor apraxia 32 very rare (1%) HP:0000657
28 hypoplasia of the corpus callosum 32 very rare (1%) HP:0002079
29 lower limb hypertonia 32 HP:0006895
30 supernumerary nipple 32 occasional (7.5%) HP:0002558
31 generalized hypotonia 32 HP:0001290
32 exotropia 32 very rare (1%) HP:0000577
33 short thumb 32 HP:0009778
34 chordee 32 very rare (1%) HP:0000041
35 syringomyelia 32 very rare (1%) HP:0003396
36 delayed cns myelination 32 very rare (1%) HP:0002188
37 cerebral white matter hypoplasia 32 very rare (1%) HP:0012430
38 tethered cord 32 very rare (1%) HP:0002144

Drugs & Therapeutics for Cleft Palate, Psychomotor Retardation, and Distinctive Facial...

Search Clinical Trials , NIH Clinical Center for Cleft Palate, Psychomotor Retardation, and Distinctive Facial Features

Genetic Tests for Cleft Palate, Psychomotor Retardation, and Distinctive Facial...

Genetic tests related to Cleft Palate, Psychomotor Retardation, and Distinctive Facial Features:

# Genetic test Affiliating Genes
1 Cleft Palate, Psychomotor Retardation, and Distinctive Facial Features 29 KDM1A

Anatomical Context for Cleft Palate, Psychomotor Retardation, and Distinctive Facial...

Publications for Cleft Palate, Psychomotor Retardation, and Distinctive Facial...

Variations for Cleft Palate, Psychomotor Retardation, and Distinctive Facial...

UniProtKB/Swiss-Prot genetic disease variations for Cleft Palate, Psychomotor Retardation, and Distinctive Facial Features:

75
# Symbol AA change Variation ID SNP ID
1 KDM1A p.Glu379Lys VAR_076366 rs864309715
2 KDM1A p.Asp556Gly VAR_076367 rs864309716
3 KDM1A p.Tyr761His VAR_076368 rs864309714

ClinVar genetic disease variations for Cleft Palate, Psychomotor Retardation, and Distinctive Facial Features:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 KDM1A NM_001009999.2(KDM1A): c.2353T> C (p.Tyr785His) single nucleotide variant Pathogenic rs864309714 GRCh37 Chromosome 1, 23408767: 23408767
2 KDM1A NM_001009999.2(KDM1A): c.2353T> C (p.Tyr785His) single nucleotide variant Pathogenic rs864309714 GRCh38 Chromosome 1, 23082274: 23082274
3 KDM1A NM_001009999.2(KDM1A): c.1207G> A (p.Glu403Lys) single nucleotide variant Pathogenic rs864309715 GRCh37 Chromosome 1, 23395059: 23395059
4 KDM1A NM_001009999.2(KDM1A): c.1207G> A (p.Glu403Lys) single nucleotide variant Pathogenic rs864309715 GRCh38 Chromosome 1, 23068566: 23068566
5 KDM1A NM_001009999.2(KDM1A): c.1739A> G (p.Asp580Gly) single nucleotide variant Pathogenic rs864309716 GRCh37 Chromosome 1, 23403725: 23403725
6 KDM1A NM_001009999.2(KDM1A): c.1739A> G (p.Asp580Gly) single nucleotide variant Pathogenic rs864309716 GRCh38 Chromosome 1, 23077232: 23077232

Expression for Cleft Palate, Psychomotor Retardation, and Distinctive Facial...

Search GEO for disease gene expression data for Cleft Palate, Psychomotor Retardation, and Distinctive Facial Features.

Pathways for Cleft Palate, Psychomotor Retardation, and Distinctive Facial...

GO Terms for Cleft Palate, Psychomotor Retardation, and Distinctive Facial...

Sources for Cleft Palate, Psychomotor Retardation, and Distinctive Facial...

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....