Feeding difficulties, and Tetralogy of Fallot

Diseases related with Feeding difficulties and Tetralogy of Fallot

In the following list you will find some of the most common rare diseases related to Feeding difficulties and Tetralogy of Fallot that can help you solving undiagnosed cases.

Top matches:

Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency is characterised by delayed motor development, hypotonia and progressive neurodegeneration. To date, it has been described in four boys. The syndrome is caused by mutations affecting the two alleles of the HIBCH gene, encoding 3-hydroxyisobutyryl-CoA hydrolase. The mode of transmission has not yet been established.

NEURODEGENERATION DUE TO 3-HYDROXYISOBUTYRYL-COA HYDROLASE DEFICIENCY Is also known as beta-hydroxyisobutyryl coa deacylase deficiency|valine metabolic defect|methacrylic aciduria|hibch deficiency|methacrylic acid toxicity

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Nystagmus


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about NEURODEGENERATION DUE TO 3-HYDROXYISOBUTYRYL-COA HYDROLASE DEFICIENCY

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

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

Other less relevant matches:

Pancreatic hypoplasia-diabetes-congenital heart disease syndrome is characterized by partial pancreatic agenesis, diabetes mellitus, and heart anomalies (including transposition of the great vessels, ventricular or atrial septal defects, pulmonary stenosis, or patent ductus arteriosis).

PANCREATIC HYPOPLASIA-DIABETES-CONGENITAL HEART DISEASE SYNDROME Is also known as pancreatic hypoplasia, congenital, with diabetes mellitus and congenital heart disease|pancreatic agenesis and congenital heart defects|pachd|yorifuji-okuno syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Failure to thrive


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about PANCREATIC HYPOPLASIA-DIABETES-CONGENITAL HEART DISEASE SYNDROME

The duplication/inversion 15q11 or isodicentric 15 chromosome (inv dup(15) or idic(15)) syndrome is a chromosomal disorder with distinctive clinical findings characterized by early central hypotonia, developmental delay and intellectual deficit, epilepsy, and autistic behavior.

DUPLICATION/INVERSION 15Q11 Is also known as invdup(15)|non-distal tetrasomy 15q|isodicentric 15 chromosome|non-telomeric tetrasomy 15q|idic(15)

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: ORPHANET MESH MENDELIAN

More info about DUPLICATION/INVERSION 15Q11

Renpenning syndrome is an X-linked mental retardation syndrome with clinically recognizable features. Affected individuals have microcephaly, short stature, small testes, and dysmorphic facies, including tall narrow face, upslanting palpebral fissures, abnormal nasal configuration, cupped ears, and short philtrum. The nose may appear long or bulbous, with overhanging columella. Less consistent manifestations include ocular colobomas, cardiac malformations, cleft palate, and anal anomalies. Stevenson et al. (2005) proposed that the various X-linked mental retardation syndromes due to PQBP1 mutations be combined under the name of Renpenning syndrome.

RENPENNING SYNDROME 1; RENS1 Is also known as mrxs3|mental retardation, x-linked, syndromic 3|shs|mental retardation, x-linked, renpenning type|golabi-ito-hall syndrome|mental retardation, x-linked 55|mental retardation, x-linked, syndromic 8|mrxs8|mrx55|mental retardation, x-linked, with spastic dip

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about RENPENNING SYNDROME 1; RENS1

Low match CHIME SYNDROME

CHIME syndrome is a rare ectodermal dysplasia syndrome characterized by ocular colobomas, cardiac defects, ichthyosiform dermatosis, intellectual disability, conductive hearing loss and epilepsy.

CHIME SYNDROME Is also known as coloboma-congenital heart disease-ichthyosiform dermatosis-intellectual disability-ear anomalies syndrome|zunich-kaye syndrome|zunich neuroectodermal syndrome|neuroectodermal syndrome, zunich type|chime syndrome|gpibd5|pigl-cdg|neuroectodermal dysplasia,

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about CHIME SYNDROME

Mowat-Wilson syndrome is an autosomal dominant complex developmental disorder; individuals with functional null mutations present with mental retardation, delayed motor development, epilepsy, and a wide spectrum of clinically heterogeneous features suggestive of neurocristopathies at the cephalic, cardiac, and vagal levels. Mowat-Wilson syndrome has many clinical features in common with Goldberg-Shprintzen syndrome (OMIM ) but the 2 disorders are genetically distinct (Mowat et al., 2003). Goldberg-Shprintzen syndrome is caused by mutation in the KIAA1279 gene (OMIM ) located on 10q.

MOWAT-WILSON SYNDROME; MOWS Is also known as microcephaly, mental retardation, and distinct facial features, with or without hirschsprung disease|hirschsprung disease-mental retardation syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MOWAT-WILSON SYNDROME; MOWS

Low match NAGER SYNDROME

Nager syndrome, also called Nager acrofacial dysostosis (NAFD) is a congenital malformation syndrome characterized by mandibulofacial dystosis (malar hypoplasia, micrognathia, external ear malformations) and variable preaxial limb defects.

NAGER SYNDROME Is also known as afd, nager type|mandibulofacial dysostosis, treacher collins type, with limb anomalies|preaxial acrodysostosis|nager acrofacial dysostosis|nager syndrome|mandibulofacial dysostosis with preaxial limb anomalies|nafd

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about NAGER SYNDROME

Low match 3C SYNDROME

Cranio-cerebello-cardiac (3C) syndrome is a rare multiple congenital anomalies syndrome characterized by craniofacial (prominent occiput and forehead, hypertelorism, ocular coloboma, cleft palate), cerebellar (Dandy-Walker malformation, cerebellar vermis hypoplasia) and cardiac (tetralogy of Fallot, atrial and ventricular septal defects) anomalies (see these terms).

3C SYNDROME Is also known as dandy-walker-like malformation with atrioventricular septal defect|craniocerebellocardiac dysplasia|3c syndrome|ritscher-schinzel syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about 3C SYNDROME

Top 5 symptoms//phenotypes associated to Feeding difficulties and Tetralogy of Fallot

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Global developmental delay Very Common - Between 80% and 100% cases
Microcephaly Common - Between 50% and 80% cases
Ventricular septal defect Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Feeding difficulties and Tetralogy of Fallot. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Strabismus

Uncommon Symptoms - Between 30% and 50% cases

Short stature

Common Symptoms - More than 50% cases

Generalized hypotonia

Uncommon Symptoms - Between 30% and 50% cases

Cleft palate

Common Symptoms - More than 50% cases

Cryptorchidism

Uncommon Symptoms - Between 30% and 50% cases

Muscular hypotonia Growth delay Abnormal facial shape Epicanthus Atrial septal defect Abnormal heart morphology Patent ductus arteriosus Brachycephaly Hearing impairment Abnormal cardiac septum morphology Hypertelorism Failure to thrive Coloboma Frontal bossing Short philtrum Wide nasal bridge Camptodactyly Brachydactyly Downslanted palpebral fissures Cerebral atrophy Agenesis of corpus callosum Ventriculomegaly Intrauterine growth retardation Hernia Scoliosis Abnormality of the skeletal system Behavioral abnormality Short nose Iris coloboma Inguinal hernia Cerebral cortical atrophy Hydronephrosis Anxiety Coarctation of aorta Clinodactyly of the 5th finger High palate Aortic valve stenosis Ptosis Pulmonic stenosis Micrognathia Unilateral renal agenesis Abnormality of the kidney Abnormality of cardiovascular system morphology Sparse hair Delayed speech and language development Hypospadias Syndactyly

Rare Symptoms - Less than 30% cases

Spastic diplegia Single umbilical artery Broad columella Pulmonary artery stenosis Hallux valgus Transposition of the great arteries Aplasia/Hypoplasia of the cerebellum Congenital diaphragmatic hernia Abnormality of the nervous system Low-set ears Cupped ear Depressed nasal bridge Hyperreflexia Prominent forehead Conductive hearing impairment Upslanted palpebral fissure Diabetes mellitus Vomiting Hydrocephalus Mandibular prognathia Alopecia Toe syndactyly Chorioretinal coloboma Joint stiffness Optic atrophy Nystagmus Anal atresia Cleft lip Intellectual disability, severe Skeletal dysplasia Preauricular skin tag Drooling High, narrow palate Malar flattening Poor suck Hypoplasia of the maxilla Microphthalmia Low-set, posteriorly rotated ears Deeply set eye Absent speech Talipes equinovarus Joint contracture of the hand Prominent nasal bridge Pectus excavatum Blindness Intestinal malrotation Respiratory distress Neurological speech impairment Fine hair Vesicoureteral reflux Everted lower lip vermilion Synophrys Autism Depressivity Midface retrusion Widely spaced teeth Cleft upper lip Finger syndactyly Absence seizures Hypermetropia Autistic behavior Abnormality of the dentition Postnatal growth retardation High forehead Posteriorly rotated ears Dilatation Pain Aplasia/Hypoplasia of the nipples Hypoplasia of penis Macrotia Bifid uvula Aganglionic megacolon Echolalia Wide mouth Hip dislocation Cerebellar malformation Recurrent otitis media Abnormality of the cerebral white matter Aplasia/Hypoplasia of the cerebral white matter Supernumerary nipple Pulmonary artery sling Pyloric stenosis Large basal ganglia Abnormal morphology of the hippocampus Abnormal eye morphology Sparse eyebrow Open mouth Pectus carinatum Camptodactyly of finger Abnormality of the genital system Bifid scrotum Postnatal microcephaly Telecanthus Abnormality of the genitourinary system Constipation Pointed chin Diarrhea Hypoplasia of the corpus callosum Fever Motor delay Cutaneous syndactyly Low-set nipples Aplasia/Hypoplasia of the phalanges of the toes Falls Generalized muscle hypertrophy Rocker bottom foot Sloping forehead Drowsiness External ear malformation Abnormal eyebrow morphology Low hanging columella Chronic constipation Misalignment of teeth Tracheal stenosis Abnormality of the gastrointestinal tract Febrile seizures Bruxism Focal-onset seizure Dehydration Large earlobe Broad hallux phalanx Esodeviation Submucous cleft hard palate Abdominal distention Tapered finger Delayed eruption of teeth Uplifted earlobe Sparse scalp hair Atypical absence seizures Happy demeanor Brain atrophy Prominent nasal tip Deep plantar creases Esotropia Aplasia/Hypoplasia of the corpus callosum Ectopic kidney Subglottic stenosis Broad eyebrow Otitis media Ectopic anus Respiratory insufficiency Postural instability Hemivertebrae Horseshoe kidney Large fontanelles Cerebellar vermis hypoplasia Low posterior hairline Limb undergrowth Dandy-Walker malformation Renal agenesis Growth hormone deficiency Decreased antibody level in blood Oral cleft Contractures of the large joints Broad forehead Feeding difficulties in infancy Gastroesophageal reflux Glaucoma Recurrent respiratory infections Cerebellar hypoplasia Immunodeficiency Kyphosis Facial hemangioma Short neck Wormian bones Narrow palate Flexion contracture Prominent occiput Enlarged cisterna magna Pierre-Robin sequence Double outlet right ventricle Adrenal hypoplasia Posterior embryotoxon Narrow nasal bridge Atrioventricular canal defect Abnormality of the hip bone Congenital glaucoma Mesomelia Communicating hydrocephalus Abnormality of the hand Mitral stenosis Hypoplastic fingernail Abnormal mitral valve morphology Complete atrioventricular canal defect Lethal skeletal dysplasia Hypoplastic left heart Abnormal tricuspid valve morphology Abnormality of the fontanelles or cranial sutures Posterior fossa cyst Abnormality of neuronal migration Hand polydactyly Macrocephaly Hypoplasia of first ribs Congestive heart failure Abnormal palate morphology Overlapping toe Radial deviation of finger Triphalangeal thumb Urticaria Pulmonary valve atresia Humoral immunodeficiency Radioulnar synostosis Atresia of the external auditory canal Atrioventricular block Hypoplasia of the radius Short toe Aplasia/Hypoplasia of the eyebrow Missing ribs Short thumb Choanal atresia Split hand Hemiparesis Dental malocclusion Premature birth Polymicrogyria Microtia Retrognathia Clinodactyly Broad hallux Limited elbow extension Sparse lower eyelashes Abnormal nasal morphology Lower eyelid coloboma Absent toe Short distal phalanx of the thumb Laryngeal hypoplasia Hemifacial hypoplasia Hypoplasia of the epiglottis Velopharyngeal insufficiency Foot oligodactyly Mandibulofacial dysostosis Abnormality of the cervical spine Gastroschisis Non-midline cleft lip Phocomelia Aqueductal stenosis Bicornuate uterus Abnormality of the lower limb Trismus Hypoplasia of the zygomatic bone Absent radius Aplasia/Hypoplasia of the radius Facial cleft Aplasia/Hypoplasia of the thumb Absent thumb Violent behavior Abnormal hair laboratory examination Aplasia/Hypoplasia of the phalanges of the hand Cardiac arrest Prolonged partial thromboplastin time Mild microcephaly Truncus arteriosus Exocrine pancreatic insufficiency Congenital hypothyroidism Glycosuria Hyperglycemia Patent foramen ovale Hyperbilirubinemia Oligohydramnios Interrupted aortic arch Hepatitis Gliosis Small for gestational age Elevated hepatic transaminase Neonatal hypotonia Umbilical hernia Hypertension Cerebral cortical hemiatrophy Conotruncal defect Ureteral duplication Perimembranous ventricular septal defect Femoral hernia Double outlet left ventricle Broad nasal tip Joint hypermobility Aggressive behavior Hyperactivity Hypogonadism Total absence of the pericardium Colon perforation Congenital defect of the pericardium Hypoplastic tricuspid valve Pancreatic aplasia Biliary atresia Hypoplasia of right ventricle Anterior pituitary agenesis Aplasia/Hypoplasia of the gallbladder Left-to-right shunt Neonatal insulin-dependent diabetes mellitus Microcolon Intermittent diarrhea Pancreatic hypoplasia Cervical ribs Subcortical cerebral atrophy Abnormality of the testis Precocious puberty Dysmetria Aminoaciduria Truncal ataxia Abnormal vertebral morphology Spastic tetraplegia Aciduria Increased serum lactate Tetraplegia Metabolic acidosis Neurodegeneration Lethargy Progressive encephalopathy Developmental regression Muscular hypotonia of the trunk Acidosis Myoclonus Encephalopathy Dystonia Hypertonia Edema Ataxia Abnormality of the vertebral column Titubation Epileptic spasms Specific learning disability Protruding tongue Absent septum pellucidum Dysphasia Aphasia Flat occiput Apathy Mutism Aortic regurgitation Status epilepticus Macroglossia Acute encephalopathy Sleep disturbance Highly arched eyebrow Downturned corners of mouth Irritability Obesity Renal insufficiency Anteverted nares Thin vermilion border Encephalomalacia Decreased activity of the pyruvate dehydrogenase complex Stereotypy 2-3 toe syndactyly Clubbing of toes Hypodontia Skin ulcer Abnormality of epiphysis morphology Tall stature Broad-based gait Depressed nasal ridge Thick lower lip vermilion Microdontia Webbed neck Ectodermal dysplasia Short foot Abnormal dermatoglyphics Thick vermilion border Short palm Ichthyosis Hypotrichosis Corneal opacity Leukemia Erythema Hyperkeratosis Decreased head circumference Osteolysis Abnormality of the outer ear Round ear Increased number of teeth Duplicated collecting system Aplastic clavicle Ureteropelvic junction obstruction Peripheral pulmonary artery stenosis Retinal coloboma Long foot Acute leukemia Acute lymphoblastic leukemia Hypoplastic nipples Decreased fertility Palmoplantar hyperkeratosis Large for gestational age Keratitis Abnormality of dental morphology Large hands Erythroderma Overfolded helix Brittle hair Growth abnormality Recurrent skin infections Narrow foot Phimosis Neurodevelopmental delay Long philtrum Long face Arachnodactyly Paraplegia Spastic paraplegia Protruding ear Thin upper lip vermilion Narrow mouth Severe short stature Pes cavus Intellectual disability, mild Triangular face Skeletal muscle atrophy Spasticity Cataract Sensorineural hearing impairment Severe receptive language delay Self-biting Severe expressive language delay Abnormality of brain morphology Gonadal dysgenesis Bulbous nose Prominent nose Moderately short stature Sprengel anomaly Macrodontia Anteverted ears Thin eyebrow Heterotaxy Abnormality of the rib cage Small face Abnormality of the thumb Sparse lateral eyebrow Ankylosis Prominent metopic ridge Decreased testicular size High hypermetropia Mild short stature Failure to thrive in infancy Nasal speech Cachexia Narrow face Abnormality of the hair Situs inversus totalis Renal hypoplasia Abnormality of the ribs Primum atrial septal defect


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