Cleft Palate, Psychomotor Retardation, And Distinctive Facial Features; Cprf
Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome is a rare, genetic multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay, axial hypotonia, palate abnormalities (including cleft palate and/or high and narrow palate), dysmorphic facial features (including prominent forehead, hypertelorism, downslanting palpebral fissures, wide nasal bridge, thin lips and widely spaced teeth), and short stature. Additional manifestations may include digital anomalies (such as brachydactyly, clinodactyly, and hypoplastic toenails), a single palmar crease, lower limb hypertonia, joint hypermobility, as well as ocular and urogenital anomalies.
Genes related to Cleft Palate, Psychomotor Retardation, And Distinctive Facial Features; Cprf
Clinical FeaturesTop most frequent phenotypes and symptoms related to Cleft Palate, Psychomotor Retardation, And Distinctive Facial Features; Cprf
- Global developmental delay
- Short stature
- Generalized hypotonia
- Motor delay
- Feeding difficulties
Incidence and onset information— Not enough data available about incidence and published cases.
Accelerate your rare disease diagnosis with us
Cleft Palate, Psychomotor Retardation, And Distinctive Facial Features; Cprf Recommended genes panels
|Panel Name, Specifity and genes Tested/covered|
Cornelia de Lange Syndrome and Cornelia de Lange Syndrome-Related Discorders Sequencing Panel with CNV Detection.
By PreventionGenetics PreventionGenetics in United States.
CHD7, CREBBP, HDAC8, RAD21, SMC3, SMC1A, NIPBL, ANKRD11, PHF6, MED12, ARID1B, TAF1, NOTCH1, SMARCE1, SOX11, KMT2A, SMARCA4, SMARCB1, ARID1A, EP300 , (...)
View the complete list with 12 more genes
Mental retardation - different panels.
By Institute of Human Genetics Cologne University in Germany.
FMR1, UBE3A, PTEN, MCCC1, MCCC2, ACAD9, PC, ANKH, HLCS, ATP7A, AUH, B4GALT7, BCKDHA, BCKDHB, BCS1L, C12orf65, ADSL, MMACHC, PRKCG, PAX6 , (...)
View the complete list with 847 more genes
qGenEx Craniofacial Anomalies.
By Quantitative Genomic Medicine Laboratories, SL in Spain.
RECQL4, EYA1, COL2A1, PAX6, FOXC1, PITX2, OTX2, SHH, DHODH, BCOR, CTSK, FGFR3, CHD7, GJB6, IKBKG, PORCN, RUNX2, FGFR2, RAD21, SMC3 , (...)
View the complete list with 116 more genes
Tempus xO assay.
By Tempus Labs, Inc. in United States.
BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, ABCB11, ABCB4, FKBP10, FOXL2, HNF1A, PPARG , (...)
View the complete list with 1693 more genes
Cleft Palate, Psychomotor Retardation, And Distinctive Facial Features; Cprf Is also known as ;palatal anomalies-multiple diastemata-facial dysmorphism-developmental delay syndrome.
If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like WRINKLY SKIN SYNDROME; WSS RECESSIVE X-LINKED ICHTHYOSIS CARNEY COMPLEX, TYPE 1; CNC1 ULNAR-MAMMARY SYNDROME; UMS EHLERS-DANLOS SYNDROME WITH PERIVENTRICULAR HETEROTOPIA