MCID: CLF048
MIFTS: 21

Cleft Palate, Psychomotor Retardation, and Distinctive Facial Features

Categories: Genetic diseases, Oral diseases, Neuronal diseases, Fetal diseases, Rare 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 53 71 28
Cprf 53 71
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome 55
Palatal Anomalies-Multiple Diastemata-Facial Dysmorphism-Developmental Delay Syndrome 55

Characteristics:

OMIM:

53
Inheritance:
autosomal dominant

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


HPO:

31
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 : 71 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, and has symptoms including constipation, macrocephaly and frontal bossing. An important gene associated with Cleft Palate, Psychomotor Retardation, and Distinctive Facial Features is KDM1A (Lysine Demethylase 1A).

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:

53
HeadAndNeckFace:
frontal bossing
prominent forehead

HeadAndNeckNose:
wide nasal bridge

SkeletalSkull:
brachycephaly

NeurologicCentralNervousSystem:
delayed myelination
developmental delay
hypotonia
speech delay
macrocerebellum
more
SkeletalHands:
fifth finger clinodactyly
short thumbs
tapered fingers

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

GrowthHeight:
birth length greater than 90%

ChestBreasts:
supernumerary nipple (in some patients)

HeadAndNeckTeeth:
widely spaced teeth

HeadAndNeckHead:
brachycephaly
macrocephaly (in some patients)

SkeletalFeet:
hypoplastic toenails
calcaneal valgus

HeadAndNeckEyes:
downslanting palpebral fissures
exotropia (in some patients)
arched eyebrows
synophrys (in some patients)

HeadAndNeckMouth:
thin upper lip
palatal anomalies

GenitourinaryInternalGenitaliaMale:
cryptorchidism (in some patients)

HeadAndNeckEars:
small, low-set ears (in some patients)


Clinical features from OMIM:

616728

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

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

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 28 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:

71
# 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.1207G> A (p.Glu403Lys) single nucleotide variant Pathogenic rs864309715 GRCh37 Chromosome 1, 23395059: 23395059

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...

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