Intellectual disability, and Coarctation of aorta

Diseases related with Intellectual disability and Coarctation of aorta

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

Top matches:

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

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about CONOTRUNCAL HEART MALFORMATIONS; CTHM

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

Other less relevant matches:

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

GDACCF is an intellectual disability syndrome apparent soon after birth with neonatal hypotonia, poor feeding, and respiratory insufficiency followed by delayed psychomotor development and intellectual disability with poor speech. Brain imaging shows aplasia or hypoplasia of the corpus callosum. Affected individuals have variable dysmorphic facial features, and some may have dysplastic, cystic kidneys or mild cardiac defects (summary by Stevens et al., 2016).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about GLOBAL DEVELOPMENTAL DELAY, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM, AND DYSMORPHIC FACIES; GDACCF

KLEEFSTRA SYNDROME DUE TO 9Q34 MICRODELETION Is also known as kleefstra syndrome due to del(9)(q34)|9q subtelomeric deletion syndrome|kleefstra syndrome due to 9q subtelomeric deletion|kleefstra syndrome due to monosomy 9q34|9qstds

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Microcephaly


SOURCES: ORPHANET MENDELIAN

More info about KLEEFSTRA SYNDROME DUE TO 9Q34 MICRODELETION

Medium match CHAR SYNDROME

Char syndrome is characterized by the triad of patent ductus arteriosus (PDA), facial dysmorphism and hand anomalies.

CHAR SYNDROME Is also known as patent ductus arteriosus with facial dysmorphism and abnormal fifth digits

Related symptoms:

  • Global developmental delay
  • Hearing impairment
  • Hypertelorism
  • Strabismus
  • Abnormal facial shape


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about CHAR SYNDROME

Sifrim-Hitz-Weiss syndrome is an autosomal dominant intellectual disability syndrome associated with variable congenital defects affecting other systems, including cardiac, skeletal, and urogenital. Some patients may have short stature, enlarged head circumference, hearing loss, and nonspecific dysmorphic facial features (summary by Sifrim et al., 2016 and Weiss et al., 2016).

SIFRIM-HITZ-WEISS SYNDROME; SIHIWES Is also known as sifrim-hitz-weiss multiple congenital anomalies-mental retardation syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM MENDELIAN

More info about SIFRIM-HITZ-WEISS SYNDROME; SIHIWES

Medium 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

Medium match CHILD SYNDROME

CHILD syndrome (Congenital Hemidysplasia with Ichthyosiform nevus and Limb Defects, CS) is an X-linked dominant genodermatosis characterized by unilateral inflammatory and scaling skin lesions with ipsilateral visceral and limb anomalies.

CHILD SYNDROME Is also known as child syndrome|child nevus|ichthyosiform erythroderma, unilateral, with ipsilateral malformations, especially absence deformity of limbs|congenital hemidysplasia with ichthyosiform nevus and limbs defects

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Scoliosis
  • Micrognathia


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about CHILD SYNDROME

Top 5 symptoms//phenotypes associated to Intellectual disability and Coarctation of aorta

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Abnormality of cardiovascular system morphology Uncommon - Between 30% and 50% cases
Hypertelorism Uncommon - Between 30% and 50% cases
Abnormal cardiac septum morphology Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Intellectual disability and Coarctation of aorta. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Microcephaly Cleft palate Hearing impairment Cryptorchidism Feeding difficulties Atrial septal defect Patent ductus arteriosus Abnormal facial shape Highly arched eyebrow Generalized hypotonia Abnormal heart morphology Ventricular septal defect Anteverted nares Upslanted palpebral fissure Ventriculomegaly Agenesis of corpus callosum Tetralogy of Fallot Low-set ears Cleft upper lip Vesicoureteral reflux Short palpebral fissure Intellectual disability, mild Strabismus Hypermetropia

Rare Symptoms - Less than 30% cases

Growth delay Scoliosis Short clavicles Abnormality of the skeletal system Syndactyly Broad forehead Poor speech Cupped ear Broad nasal tip Trigonocephaly Short 5th finger Sleep disturbance Ptosis Epicanthus Wide nasal bridge Downslanted palpebral fissures Hypodontia Protruding ear Coarse facial features Hydronephrosis Flat occiput Polydactyly Behavioral abnormality Short nose Renal insufficiency Everted lower lip vermilion Renal agenesis Seizures Hypogonadism Severe short stature Micropenis Clinodactyly Cleft lip Depressed nasal bridge Oral cleft Broad hallux Postaxial polydactyly Autistic behavior Short femoral neck Triangular mouth Mesoaxial hand polydactyly Gait imbalance Flat acetabular roof No permanent dentition Parasomnia Muscular ventricular septal defect Symphalangism of the 5th finger Mesoaxial foot polydactyly Anteriorly placed anus Thin vermilion border Distal/middle symphalangism of 5th finger Macrocephaly Astigmatism Persistence of primary teeth Postural instability Ambiguous genitalia Neurodevelopmental delay Omphalocele Wormian bones Arnold-Chiari malformation Tapered finger Iris coloboma Short middle phalanx of the 5th finger Short philtrum Subcortical cerebral atrophy Conotruncal defect Cerebral cortical hemiatrophy Myopia Congestive heart failure Long philtrum Malar flattening Clinodactyly of the 5th finger Narrow mouth High forehead Craniosynostosis Toe syndactyly Prominent occiput Thick eyebrow Thick vermilion border Abnormality of metabolism/homeostasis Premature birth Depressed nasal ridge Finger clinodactyly Bicuspid aortic valve Coarse hair Hand polydactyly High palate Supernumerary nipple Abnormality of the dentition Pulmonic stenosis Brachydactyly Meningocele Nevus Cyanosis Abnormality of the nail Short ribs Congenital hip dislocation Renal hypoplasia/aplasia Erythroderma Congenital ichthyosiform erythroderma Epiphyseal stippling Parakeratosis Adrenal hypoplasia Myelomeningocele Ichthyosis Hypoplastic scapulae Hypoplastic pelvis Subvalvular aortic stenosis Vertebral hypoplasia Thyroid hypoplasia Single ventricle Aplasia/hypoplasia of the extremities Mild intrauterine growth retardation Aplasia/Hypoplasia involving the central nervous system Parachute mitral valve Elevated 8-dehydrocholesterol Pulmonary hypoplasia Hypotrichosis Feeding difficulties in infancy Neonatal hypoglycemia Abnormality of the testis Hirsutism Dental malocclusion Otitis media Recurrent otitis media Decreased body weight Long eyelashes Atrioventricular canal defect Long palpebral fissure Natal tooth Central hypotonia Short columella Erythema Depressed nasal tip Generalized joint laxity Sparse lateral eyebrow Long hallux Prominent fingertip pads Abnormality of the breast Eversion of lateral third of lower eyelids Micrognathia Flexion contracture Alopecia Hyperkeratosis Umbilical hernia Femoral hernia Absent septum pellucidum Echolalia Neoplasm Cutaneous syndactyly Tented upper lip vermilion Sparse eyebrow 2-3 toe syndactyly Sensorineural hearing impairment High anterior hairline Large forehead Achalasia Short 2nd finger Laterally extended eyebrow Oral aversion Anomalous origin of one pulmonary artery from ascending aorta Broad thumb Aortopulmonary window Complete atrioventricular canal defect Frontal bossing Talipes equinovarus Pulmonary artery atresia Maternal diabetes Respiratory insufficiency Hypoplasia of the corpus callosum Retrognathia Truncus arteriosus Pes planus Sandal gap Narrow forehead Double outlet right ventricle Ectrodactyly Hypotelorism Myocardial infarction Primary amenorrhea Choanal atresia Gynecomastia Hypogonadotrophic hypogonadism Holoprosencephaly Anosmia Reduced number of teeth Unilateral renal agenesis Hypopituitarism Thromboembolism Full cheeks Hyposmia Gonadotropin deficiency Prostate cancer Microphallus Bimanual synkinesia Delayed puberty Motor delay Coloboma Abnormality of the nervous system Gastroesophageal reflux Deeply set eye Osteopenia Neonatal hypotonia Telecanthus Epileptic spasms Macroglossia Depressivity Inguinal hernia Brachycephaly Cerebral cortical atrophy Autism Anxiety Irritability Synophrys Downturned corners of mouth Hypocalcemia Bifid uvula Specific learning disability Midface retrusion Hypoplasia of penis Status epilepticus Aortic valve stenosis Absence seizures Aortic regurgitation Mutism Apathy Aphasia Dysphasia Amenorrhea Protruding tongue Obesity Nasal speech Abnormality of the pinna Hypoparathyroidism Wide mouth Talipes Smooth philtrum Renal cyst Triangular face Growth hormone deficiency Mitral valve prolapse Renal dysplasia Pointed chin Narrow palate Deep philtrum Hypoplastic left heart Transposition of the great arteries Delayed ability to walk Inverted nipples Low hanging columella Mitral stenosis Gastrointestinal dysmotility Broad columella Oval face Narrow philtrum Infra-orbital crease Submucous cleft hard palate Failure to thrive Muscular hypotonia Elevated 8(9)-cholestenol


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