Cleft palate, and Coarctation of aorta

Diseases related with Cleft palate and Coarctation of aorta

In the following list you will find some of the most common rare diseases related to Cleft palate and Coarctation of aorta that can help you solving undiagnosed cases.


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Medium match INTELLECTUAL DISABILITY-FEEDING DIFFICULTIES-DEVELOPMENTAL DELAY-MICROCEPHALY SYNDROME


Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by borderline to severe intellectual disability, global development delay, feeding difficulties, microcephaly, short stature and mild facial dysmorphism, including thick eyebrows, long eyelashes, prominent incisors and/or thin upper lip. Other associated features may include hypermetropia with or without esotropia, behavioral anomallies (e.g. autistic behavior, sleeping disturbances), urogenital abnormalities (e.g. crytorchidism, inguinal hernia), single palmar crease, fifth-finger clinodactyly and cardiac defects (e.g. ASD, PDA).

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Microcephaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about INTELLECTUAL DISABILITY-FEEDING DIFFICULTIES-DEVELOPMENTAL DELAY-MICROCEPHALY SYNDROME

Low match CONOTRUNCAL HEART MALFORMATIONS; CTHM


Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hypertelorism
  • Cleft palate
  • Depressed nasal bridge


SOURCES: OMIM MENDELIAN

More info about CONOTRUNCAL HEART MALFORMATIONS; CTHM

Low match HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA; HH2


Congenital idiopathic hypogonadotropic hypogonadism (IHH) is a disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. Idiopathic hypogonadotropic hypogonadism can be caused by an isolated defect in gonadotropin-releasing hormone (GNRH ) release, action, or both. Other associated nonreproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss, occur with variable frequency. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism has been called 'Kallmann syndrome (KS),' whereas in the presence of a normal sense of smell, it has been termed 'normosmic idiopathic hypogonadotropic hypogonadism (nIHH)' (summary by Raivio et al., 2007). Because families have been found to segregate both KS and nIHH, the disorder is here referred to as 'hypogonadotropic hypogonadism with or without anosmia (HH).'Although HH was initially considered to be a monogenic disorder, the presence of marked locus heterogeneity, incomplete penetrance within pedigrees, and variable expressivity of pathogenic alleles, together with evidence for mutations in multiple genes in some affected individuals, resulted in a conceptual shift from monogenicity to an oligogenic framework in which a limited number of genes contribute pathogenic alleles to the genetic network responsible for the neuroendocrine control of human reproduction (Sykiotis et al., 2010). Genetic Heterogeneity of Hypogonadotropic Hypogonadism with or without AnosmiaOther forms of autosomal hypogonadotropic hypogonadism with or without anosmia include HH3 (OMIM ), caused by mutation in the PROKR2 gene (OMIM ); HH4 (OMIM ), caused by mutation in the PROK2 gene (OMIM ); HH5 (OMIM ), caused by mutation in the CHD7 gene (OMIM ); HH6 (OMIM ), caused by mutation in the FGF8 gene (OMIM ); HH7 (OMIM ), caused by mutation in the GNRHR gene (OMIM ); HH8 (OMIM ), caused by mutation in the KISS1R gene (OMIM ); HH9 (OMIM ), caused by mutation in the NELF gene (OMIM ); HH10 (OMIM ), caused by mutation in the TAC3 gene (OMIM ); HH11 (OMIM ), caused by mutation in the TACR3 gene (OMIM ); HH12 (OMIM ), caused by mutation in the GNRH1 gene (OMIM ); HH13 (OMIM ), caused by mutation in the KISS1 gene (OMIM ); HH14 (OMIM ), caused by mutation in the WDR11 gene (OMIM ); HH15 (OMIM ), caused by mutation in the HS6ST1 gene (OMIM ); HH16 (OMIM ), caused by mutation in the SEMA3A gene (OMIM ); HH17 (OMIM ), caused by mutation in the SPRY4 gene (OMIM ); HH18 (OMIM ), caused by mutation in the IL17RD gene (OMIM ); HH19 (OMIM ), caused by mutation in the DUSP6 gene (OMIM ); HH20 (OMIM ), caused by mutation in the FGF17 gene (OMIM ); HH21 (OMIM ), caused by mutation in the FLRT3 gene (OMIM ); HH22 (OMIM ), caused by mutation in the FEZF1 gene (OMIM ); HH23 (OMIM ), caused by mutation in the LHB gene (OMIM ); and HH24 (OMIM ), caused by mutation in the FSHB gene (OMIM ).There is also an X-linked form of the disorder (HH1 ), caused by mutation in the KAL1 gene (OMIM ).There is evidence that mutation in 2 or more of these genes can work in combination (oligogenicity) to produce GnRH-deficient conditions (summary by Chan, 2011). Sykiotis et al. (2010), for example, demonstrated that of patients with an identifiable coding sequence mutation in 1 of 8 genes responsible for isolated GnRH deficiency, 11% carried mutations in at least one other of these genes as well.To assess oligogenicity in hypogonadotropic hypogonadism, Miraoui et al. (2013) analyzed 350 HH probands of European descent for mutation in 17 HH-associated genes. Mutations were identified in 124 (35%) of the probands, and 24 (19%) of the mutation-positive probands carried at least 2 mutant alleles from different genes. Miraoui et al. (2013) noted that 23 of the 24 oligogenic cases involved at least 1 gene associated with the fibroblast growth factor (FGF) network (see {601513}).Dode et al. (2006) stated that loss-of-function mutations in the KAL1 (OMIM ) and FGFR1 genes account for approximately 20% of all cases of Kallmann syndrome and that mutations in the PROKR2 and PROK2 genes account for an additional 10%.Gurbuz et al. (2012) reviewed all causative mutations detected in multiplex families with normosmic hypogonadotropic hypogonadism over a 7-year period in Turkey. Mutations that segregated with disease were identified in 17 (77.2%) of 22 families studied, including mutations of the GNRHR gene in 7 (31.8%) of the families, TACR3 in 6 (27.2%), KISSR in 2 (9%), TAC3 in 1 (4.5%), and KISS1 in 1 (4.5%). Inheritance was autosomal recessive in all 17 families.Valdes-Socin et al. (2014) reviewed the reproductive, neurodevelopmental, and genetic aspects of hypogonadotropic hypogonadism in human pathology.

HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA; HH2 Is also known as kallmann syndrome 2|kal2

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Neoplasm
  • Sensorineural hearing impairment


SOURCES: OMIM MENDELIAN

More info about HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA; HH2

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Other less relevant matches:

Low match CLEFT PALATE, CARDIAC DEFECTS, AND MENTAL RETARDATION; CPCMR


CLEFT PALATE, CARDIAC DEFECTS, AND MENTAL RETARDATION; CPCMR Is also known as cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Microcephaly
  • Abnormal facial shape


SOURCES: MESH OMIM MENDELIAN

More info about CLEFT PALATE, CARDIAC DEFECTS, AND MENTAL RETARDATION; CPCMR

Low match HOLOPROSENCEPHALY 9; HPE9


Holoprosencephaly-9 refers to a disorder characterized by a wide phenotypic spectrum of brain developmental defects, with or without overt forebrain cleavage abnormalities. It usually includes midline craniofacial anomalies involving the first branchial arch and/or orbits, pituitary hypoplasia with panhypopituitarism, and postaxial polydactyly. The disorder shows incomplete penetrance and variable expressivity (summary by Roessler et al., 2003 and Bertolacini et al., 2012).For general phenotypic information and a discussion of genetic heterogeneity of holoprosencephaly, see HPE1 (OMIM ).

HOLOPROSENCEPHALY 9; HPE9 Is also known as holoprosencephaly with microphthalmia and first branchial arch anomalies|pituitary anomalies with holoprosencephaly-like features

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly
  • Cryptorchidism


SOURCES: OMIM MENDELIAN

More info about HOLOPROSENCEPHALY 9; HPE9

Low match HYDRANENCEPHALY


Kabuki syndrome is a congenital mental retardation syndrome with additional features, including postnatal dwarfism, a peculiar facies characterized by long palpebral fissures with eversion of the lateral third of the lower eyelids (reminiscent of the make-up of actors of Kabuki, a Japanese traditional theatrical form), a broad and depressed nasal tip, large prominent earlobes, a cleft or high-arched palate, scoliosis, short fifth finger, persistence of fingerpads, radiographic abnormalities of the vertebrae, hands, and hip joints, and recurrent otitis media in infancy (Niikawa et al., 1981).For a discussion of genetic heterogeneity of Kabuki syndrome, see KABUK1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: OMIM ORPHANET MENDELIAN

More info about HYDRANENCEPHALY

Low match MECKEL SYNDROME, TYPE 1; MKS1


Meckel syndrome, also known as Meckel-Gruber syndrome, is a severe pleiotropic autosomal recessive developmental disorder caused by dysfunction of primary cilia during early embryogenesis. There is extensive clinical variability and controversy as to the minimum diagnostic criteria. Early reports, including that of Opitz and Howe (1969) and Wright et al. (1994), stated that the classic triad of Meckel syndrome comprises (1) cystic renal disease; (2) a central nervous system malformation, most commonly occipital encephalocele; and (3) polydactyly, most often postaxial. However, based on a study of 67 patients, Salonen (1984) concluded that the minimum diagnostic criteria are (1) cystic renal disease; (2) CNS malformation, and (3) hepatic abnormalities, including portal fibrosis or ductal proliferation. In a review of Meckel syndrome, Logan et al. (2011) stated that the classic triad first described by Meckel (1822) included occipital encephalocele, cystic kidneys, and fibrotic changes to the liver. Genetic Heterogeneity of Meckel SyndromeSee also MKS2 (OMIM ), caused by mutation in the TMEM216 gene (OMIM ) on chromosome 11q12; MKS3 (OMIM ), caused by mutation in the TMEM67 gene (OMIM ) on chromosome 8q; MKS4 (OMIM ), caused by mutation in the CEP290 gene (OMIM ) on chromosome 12q; MKS5 (OMIM ), caused by mutation in the RPGRIP1L gene (OMIM ) on chromosome 16q12; MKS6 (OMIM ), caused by mutation in the CC2D2A gene (OMIM ) on chromosome 4p15; MKS7 (OMIM ), caused by mutation in the NPHP3 (OMIM ) gene on chromosome 3q22; MKS8 (OMIM ), caused by mutation in the TCTN2 gene (OMIM ) on chromosome 12q24; MKS9 (OMIM ), caused by mutation in the B9D1 gene (OMIM ) on chromosome 17p11; MKS10 (OMIM ), caused by mutation in the B9D2 gene (OMIM ) on chromosome 19q13; MKS11 (OMIM ), caused by mutation in the TMEM231 gene (OMIM ) on chromosome 16q23; MKS12 (OMIM ), caused by mutation in the KIF14 gene (OMIM ) on chromosome 1q32; and MKS13 (OMIM ), caused by mutation in the TMEM107 gene (OMIM ) on chromosome 17p13.

MECKEL SYNDROME, TYPE 1; MKS1 Is also known as mks|meckel-gruber syndrome, type 1|meckel syndrome|gruber syndrome|dysencephalia splanchnocystica|mes|meckel-gruber syndrome

Related symptoms:

  • Microcephaly
  • Hypertelorism
  • Micrognathia
  • Cleft palate
  • Cryptorchidism


SOURCES: OMIM MENDELIAN

More info about MECKEL SYNDROME, TYPE 1; MKS1

Low match FETAL AKINESIA DEFORMATION SEQUENCE


The fetal akinesia/hypokinesia sequence (or Pena-Shokeir syndrome type I) is characterized by multiple joint contractures, facial anomalies and pulmonary hypoplasia. Whatever the cause, the common feature of this sequence is decreased foetal activity.

FETAL AKINESIA DEFORMATION SEQUENCE Is also known as arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome|arthrogryposis multiplex congenita with pulmonary hypoplasia|fads|pena-shokeir syndrome type 1|fetal akinesia sequence|pena-shokeir syndrome, type i

Related symptoms:

  • Scoliosis
  • Growth delay
  • Hypertelorism
  • Micrognathia
  • Cleft palate


SOURCES: OMIM ORPHANET MENDELIAN

More info about FETAL AKINESIA DEFORMATION SEQUENCE

Low match KABUKI SYNDROME


Kabuki syndrome (KS) is a multiple congenital anomaly syndrome characterized by typical facial features, skeletal anomalies, mild to moderate intellectual disability and postnatal growth deficiency.

KABUKI SYNDROME Is also known as kabuki make-up syndrome|niikawa-kuroki syndrome

Related symptoms:

  • Seizures
  • Short stature
  • Microcephaly
  • Scoliosis
  • Nystagmus


SOURCES: ORPHANET MENDELIAN

More info about KABUKI SYNDROME

Low match CATEL-MANZKE SYNDROME


Catel-Manzke syndrome is a rare bone disease characterized by bilateral hyperphalangy and clinodactyly of the index finger typically in association with Pierre Robin sequence (see this term) comprising micrognathia, cleft palate and glossoptosis.

CATEL-MANZKE SYNDROME Is also known as index finger anomaly-pierre robin syndrome|index finger anomaly with pierre robin syndrome|pierre robin syndrome-hyperphalangy-clinodactyly syndrome|micrognathia digital syndrome|palatodigital syndrome, catel-manzke type|pierre robin syndrome with hyperph

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Scoliosis
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about CATEL-MANZKE SYNDROME

Top 5 symptoms//phenotypes associated to Cleft palate and Coarctation of aorta

Symptoms // Phenotype % cases
Short stature Common - Between 50% and 80% cases
Cryptorchidism Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Intellectual disability Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Cleft palate and Coarctation of aorta. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Abnormal cardiac septum morphology Atrial septal defect High palate Scoliosis Cleft lip Hydrocephalus Cleft upper lip Hypertelorism Seizures Ventricular septal defect Oral cleft Abnormality of cardiovascular system morphology Highly arched eyebrow Low-set ears Short neck Coloboma Short 5th finger Iris coloboma Hypotelorism Micrognathia Clinodactyly Polydactyly Pulmonary hypoplasia Agenesis of corpus callosum Intrauterine growth retardation Postaxial polydactyly Depressed nasal bridge Strabismus Feeding difficulties

Rare Symptoms - Less than 30% cases


Sparse lateral eyebrow Macrocephaly Long eyelashes Large forehead Natal tooth Short columella Depressed nasal tip Broad hallux Short middle phalanx of finger Respiratory distress Camptodactyly of finger Generalized hypotonia Upslanted palpebral fissure Syndactyly Abnormality of the skeletal system Abnormal heart morphology Full cheeks Decreased body weight Camptodactyly Preauricular skin tag Cystic hygroma Patent ductus arteriosus Abnormality of the dentition Brachydactyly Failure to thrive Ventriculomegaly Protruding ear Hemivertebrae Sloping forehead Malar flattening Postaxial hand polydactyly Hypodontia Dental malocclusion Autistic behavior Pulmonic stenosis Macrotia Hypermetropia Joint hyperflexibility Microphthalmia Abnormal facial shape Eversion of lateral third of lower eyelids Cerebellar hypoplasia Talipes equinovarus Adrenal hypoplasia Anencephaly Sensorineural hearing impairment Micropenis Short palpebral fissure Hydronephrosis Growth delay Ptosis Narrow mouth Flexion contracture Renal agenesis Severe short stature Prominent antihelix Dandy-Walker malformation Talipes Edema Proptosis Posteriorly rotated ears Holoprosencephaly Respiratory insufficiency Cerebral hypoplasia Neural tube defect Thoracic hypoplasia Telecanthus Generalized amyotrophy Urethral atresia Hypokinesia Lobulated tongue Meningoencephalocele Blepharophimosis Elevated alpha-fetoprotein Ambiguous genitalia, female Accessory spleen Slender long bone Absent septum pellucidum Thin ribs Fatigable weakness Abnormality of abdomen morphology Fetal akinesia sequence Excessive daytime somnolence Urethral obstruction Elevated amniotic fluid alpha-fetoprotein Hypoplasia of the bladder Congenital contracture Small for gestational age High, narrow palate Downslanted palpebral fissures Skeletal muscle atrophy Premature birth Decreased fetal movement Peripheral neuropathy Abnormality of pelvic girdle bone morphology Pterygium Overlapping fingers Multiple joint contractures Kyphosis Long philtrum Occipital meningocele Large placenta Polyhydramnios Akinesia Rocker bottom foot Olfactory lobe agenesis Arthrogryposis multiplex congenita Craniorachischisis Obesity Ulnar deviation of the hand Joint stiffness Abnormality of epiphysis morphology Hypertrichosis Small nail Single transverse palmar crease Short distal phalanx of finger Pectus carinatum Postnatal growth retardation Short toe Abnormality of the pinna Low-set, posteriorly rotated ears Joint laxity Umbilical hernia Retrognathia Clinodactyly of the 5th finger Inguinal hernia Wide anterior fontanel Finger clinodactyly Lip pit Thin eyebrow Ulnar deviation of the 2nd finger Radial deviation of the 2nd finger Oral synechia Knee dislocation Metatarsus valgus Overriding aorta Ankyloglossia Short hallux Joint dislocation Pierre-Robin sequence Glossoptosis Short humerus Dextrocardia Chronic otitis media Adducted thumb Narrow palpebral fissure Pectus excavatum Crossed fused renal ectopia Cavum septum pellucidum Intestinal hypoplasia EEG abnormality Cerebral cortical atrophy Hypospadias Portal fibrosis Recurrent infections Muscular hypotonia Nystagmus Absent palmar crease Hip dislocation Small placenta Short umbilical cord Elbow ankylosis Ulnar deviation of the hand or of fingers of the hand Thyroid hypoplasia Fractures of the long bones Hydranencephaly Conductive hearing impairment Small hand Vertebral clefting Precocious puberty Duplicated collecting system Butterfly vertebrae Ureteropelvic junction obstruction Abnormal localization of kidney Abnormality of immune system physiology Mask-like facies Abnormality of dental morphology Renal hypoplasia/aplasia Microcornea Widely spaced teeth Abnormal dermatoglyphics Abnormal form of the vertebral bodies Blue sclerae Congenital diaphragmatic hernia Hypoplasia of penis Microdontia Cerebellar dysplasia Bowing of the long bones Ambiguous genitalia, male 2-3 toe syndactyly Bimanual synkinesia Motor delay Gastroesophageal reflux Deeply set eye Broad forehead Poor speech Abnormality of metabolism/homeostasis Narrow forehead Broad thumb Sandal gap Cutaneous syndactyly Tented upper lip vermilion Sparse eyebrow Trigonocephaly Intellectual disability, mild Prostate cancer Microtia Anophthalmia Heart murmur Patent foramen ovale Optic nerve hypoplasia Growth hormone deficiency Hypoplasia of the maxilla Short philtrum High anterior hairline Midface retrusion Thin vermilion border Oral aversion Laterally extended eyebrow Short 2nd finger Achalasia Microphallus Gonadotropin deficiency Partial agenesis of the corpus callosum Aortopulmonary window Hypogonadism Hypocalcemia Nasal speech Neoplasm Hearing impairment Anomalous origin of one pulmonary artery from ascending aorta Complete atrioventricular canal defect Abnormality of the nervous system Pulmonary artery atresia Maternal diabetes Truncus arteriosus Double outlet right ventricle Hypoparathyroidism Submucous cleft hard palate Osteopenia Tetralogy of Fallot Hyposmia Hypogonadotrophic hypogonadism Thromboembolism Ectrodactyly Hypopituitarism Unilateral renal agenesis Reduced number of teeth Anosmia Gynecomastia Delayed puberty Choanal atresia Primary amenorrhea Myocardial infarction Amenorrhea Vesicoureteral reflux Bifid uvula Neurodevelopmental delay Median cleft lip Cystic renal dysplasia Multicystic kidney dysplasia Wide mouth Anal atresia Renal cyst Intestinal malrotation Webbed neck Oligohydramnios Omphalocele Encephalocele Transposition of the great arteries Abnormality of the genital system Renal dysplasia Hepatic fibrosis Spina bifida Spontaneous abortion Arnold-Chiari malformation Splenomegaly Meningocele Bile duct proliferation Abnormality of the larynx Abnormality of the uterus Breech presentation Asplenia Single umbilical artery Foot polydactyly Polycystic kidney dysplasia Abnormality of the ureter Occipital encephalocele External genital hypoplasia Hydroureter Radial deviation of finger Preaxial polydactyly Dilatation Abnormality of the breast Bilateral cleft lip Single median maxillary incisor Single naris Underdeveloped tragus Hypoplasia of the premaxilla Thoracic hemivertebrae Alobar holoprosencephaly Semilobar holoprosencephaly Wide cranial sutures Anterior pituitary agenesis Median cleft lip and palate Anterior pituitary hypoplasia Panhypopituitarism Abnormal cortical gyration Bilateral cleft lip and palate Skin tags Short hard palate Agenesis of incisor Prominent fingertip pads Cupped ear Long hallux Generalized joint laxity Neonatal hypoglycemia Central hypotonia Long palpebral fissure Atrioventricular canal defect Recurrent otitis media Asymmetric ventricles Otitis media Broad nasal tip Hirsutism Feeding difficulties in infancy Behavioral abnormality Diastolic heart murmur Hyperphalangy of the 2nd finger



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