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 54 71 29
Cprf 24 71
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome 56
Palatal Anomalies-Multiple Diastemata-Facial Dysmorphism-Developmental Delay Syndrome 56
Cleft Palate, Psychomotor Retardation and Distinctive Facial Features 24

Characteristics:

OMIM:

54
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 : 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 short stature, ptosis and oculomotor apraxia. 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:

54

Neurologic- Central Nervous System:
hypotonia
speech delay
developmental delay
delayed myelination
macrocerebellum
more
Head And Neck- Eyes:
downslanting palpebral fissures
arched eyebrows
exotropia (in some patients)
synophrys (in some patients)

Skeletal- Feet:
hypoplastic toenails
calcaneal valgus

Head And Neck- Mouth:
thin upper lip
palatal anomalies

Skeletal- Skull:
brachycephaly

Head And Neck- Teeth:
widely spaced teeth

Growth- Height:
birth length greater than 90%

Chest- Breasts:
supernumerary nipple (in some patients)

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

Head And Neck- Face:
prominent forehead
frontal bossing

Skeletal- Hands:
fifth finger clinodactyly
tapered fingers
short thumbs

Head And Neck- Nose:
wide nasal bridge

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

Genitourinary- Internal Genitalia Male:
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 30)
id Description HPO Frequency HPO Source Accession
1 short stature 32 very rare (1%) HP:0004322
2 ptosis 32 very rare (1%) HP:0000508
3 oculomotor apraxia 32 very rare (1%) HP:0000657
4 prominent forehead 32 very rare (1%) HP:0011220
5 anteverted nares 32 very rare (1%) HP:0000463
6 global developmental delay 32 very rare (1%) HP:0001263
7 hypoplastic toenails 32 very rare (1%) HP:0001800
8 cryptorchidism 32 very rare (1%) HP:0000028
9 macrocephaly 32 very rare (1%) HP:0000256
10 hypoplasia of the corpus callosum 32 very rare (1%) HP:0002079
11 joint hypermobility 32 very rare (1%) HP:0001382
12 wide nasal bridge 32 very rare (1%) HP:0000431
13 constipation 32 very rare (1%) HP:0002019
14 brachycephaly 32 very rare (1%) HP:0000248
15 syringomyelia 32 very rare (1%) HP:0003396
16 feeding difficulties 32 very rare (1%) HP:0011968
17 downslanted palpebral fissures 32 very rare (1%) HP:0000494
18 widely spaced teeth 32 very rare (1%) HP:0000687
19 downturned corners of mouth 32 very rare (1%) HP:0002714
20 blue sclerae 32 very rare (1%) HP:0000592
21 exotropia 32 very rare (1%) HP:0000577
22 chordee 32 very rare (1%) HP:0000041
23 thin upper lip vermilion 32 very rare (1%) HP:0000219
24 tethered cord 32 very rare (1%) HP:0002144
25 delayed speech and language development 32 very rare (1%) HP:0000750
26 lower limb hypertonia 32 HP:0006895
27 abnormality of the vertebrae 32 HP:0003468
28 clinodactyly of the 5th finger 32 very rare (1%) HP:0004209
29 delayed cns myelination 32 very rare (1%) HP:0002188
30 cerebral white matter hypoplasia 32 very rare (1%) HP:0012430

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:

id Genetic test Affiliating Genes
1 Cleft Palate, Psychomotor Retardation, and Distinctive Facial Features 29
2 Cleft Palate, Psychomotor Retardation and Distinctive Facial Features 24 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
id 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
id 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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10 dbSNP
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33 ICD10
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70 UMLS via Orphanet
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