Feeding difficulties, and Coarctation of aorta

Diseases related with Feeding difficulties and Coarctation of aorta

In the following list you will find some of the most common rare diseases related to Feeding difficulties 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:

  • Seizures
  • Generalized hypotonia
  • Hearing impairment
  • Abnormal facial shape
  • Ptosis


SOURCES: OMIM MENDELIAN

More info about CARDIAC, FACIAL, AND DIGITAL ANOMALIES WITH DEVELOPMENTAL DELAY; CAFDADD

Autosomal dominant cutis laxa (ADCL) is a connective tissue disorder characterized by wrinkled, redundant and sagging inelastic skin associated in some cases with internal organ involvement.

AUTOSOMAL DOMINANT CUTIS LAXA Is also known as adcl

Related symptoms:

  • Generalized hypotonia
  • Hypertelorism
  • Feeding difficulties
  • Fatigue
  • Respiratory distress


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL DOMINANT CUTIS LAXA

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

Combined methylmalonic aciduria (MMA) and homocystinuria is a genetically heterogeneous metabolic disorder of cobalamin (cbl; vitamin B12) metabolism, which is essential for hematologic and neurologic function. Biochemically, the defect causes decreased levels of the coenzymes adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl), which results in decreased activity of the respective enzymes methylmalonyl-CoA mutase (MUT ) and methyltetrahydrofolate:homocysteine methyltransferase, also known as methionine synthase (MTR ). The cblJ type is phenotypically and biochemically similar to the cblF type (MAHCF ) (summary by Coelho et al., 2012).

METHYLMALONIC ACIDEMIA WITH HOMOCYSTINURIA, TYPE CBLJ Is also known as combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblj|methylmalonic aciduria with homocystinuria, type cblj|cblj defects|cobalamin j defect

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Growth delay
  • Hypertelorism
  • Micrognathia


SOURCES: OMIM ORPHANET MENDELIAN

More info about METHYLMALONIC ACIDEMIA WITH HOMOCYSTINURIA, TYPE CBLJ

Transaldolase deficiency is an inborn error of the pentose phosphate pathway that presents in the neonatal or antenatal period with hydrops fetalis, hepatosplenomegaly, hepatic dysfunction, thrombocytopenia, anemia, and renal and cardiac abnormalities.

TRANSALDOLASE DEFICIENCY Is also known as taldo deficiency|eyaid syndrome

Related symptoms:

  • Global developmental delay
  • Growth delay
  • Failure to thrive
  • Abnormal facial shape
  • Low-set ears


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about TRANSALDOLASE DEFICIENCY

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

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

Oculo-ectodermal syndrome (OES) is characterized by the association of epibulbar dermoids and aplasia cutis congenital.

TORIELLO-LACASSIE-DROSTE SYNDROME Is also known as oculoectodermal syndrome|aplasia cutis congenita with epibulbar dermoids|aplasia cutis congenita-epibulbar dermoids syndrome

Related symptoms:

  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Growth delay
  • Neoplasm


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about TORIELLO-LACASSIE-DROSTE SYNDROME

Top 5 symptoms//phenotypes associated to Feeding difficulties and Coarctation of aorta

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Growth delay Uncommon - Between 30% and 50% cases
Atrial septal defect Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Feeding difficulties and Coarctation of aorta. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Abnormal facial shape Microcephaly Hypertelorism Patent ductus arteriosus Short stature Seizures Cleft palate Anteverted nares Pulmonic stenosis Inguinal hernia Highly arched eyebrow Respiratory distress Ventriculomegaly Cryptorchidism Epicanthus Agenesis of corpus callosum Hearing impairment Strabismus Failure to thrive Hypermetropia

Rare Symptoms - Less than 30% cases

Upslanted palpebral fissure Abnormal heart morphology Abnormal cardiac septum morphology Short 5th finger Abnormality of cardiovascular system morphology Wide nasal bridge Brachydactyly Ventricular septal defect Gastroesophageal reflux Anemia Hydronephrosis Premature skin wrinkling Synophrys Depressed nasal bridge Muscular hypotonia Behavioral abnormality Short nose Thrombocytopenia Infra-orbital crease Telecanthus Flat occiput Deep philtrum Short palpebral fissure Absent septum pellucidum Triangular face Wide mouth Low-set ears Poor speech Cutis laxa Autistic behavior Renal insufficiency Hypoplastic left heart Absence seizures Wide intermamillary distance Abnormality of the pinna Umbilical hernia Hernia Aortic regurgitation Thin vermilion border Full cheeks Micronodular cirrhosis Dysphasia Specific learning disability Tetralogy of Fallot Hypoplasia of penis Status epilepticus Aortic valve stenosis Mutism Abnormality of the bladder Situs inversus totalis Apathy Aphasia Anisometropia Macroglossia Parietal bossing Protruding tongue Hydrops fetalis Epileptic spasms Echolalia Abnormality of the testis Decreased liver function Abnormality of the penis Wide anterior fontanel Epibulbar dermoid Femoral hernia Vesicoureteral reflux Epidermal nevus Functional respiratory abnormality Obesity Biventricular hypertrophy Dextrocardia Abnormality of the clitoris Clitoral hypertrophy Increased serum bile acid concentration Abnormality of glutamine metabolism Gastrointestinal atresia Abnormal conjunctiva morphology Exstrophy Midface retrusion Depressivity Sleep disturbance Brachycephaly Cerebral cortical atrophy Autism Anxiety Irritability Laryngeal hypoplasia Conotruncal defect Patent foramen ovale Downturned corners of mouth Everted lower lip vermilion Poor suck Subcortical cerebral atrophy Scoliosis Cerebral cortical hemiatrophy Polyhydramnios Abnormality of the ureter Aplasia cutis congenita Prominent fingertip pads Generalized hyperpigmentation Abnormality of the breast Eversion of lateral third of lower eyelids Hamartoma Neoplasm Macrocephaly Hypospadias Alopecia Hyperactivity Proptosis Blepharophimosis Long hallux Coloboma Stroke Facial asymmetry Astigmatism Short palm Nevus Abnormality of the cardiovascular system Aganglionic megacolon Hyperpigmentation of the skin Lymphedema Opacification of the corneal stroma Abnormality of the ear Multiple lipomas Arachnoid cyst Sparse lateral eyebrow Fibroma Lower limb asymmetry Aplasia/Hypoplasia of the skin High palate Bladder exstrophy Severe short stature Feeding difficulties in infancy Epispadias Abnormality of nervous system morphology Protruding ear Hirsutism Hypodontia Broad nasal tip Dental malocclusion Otitis media Recurrent otitis media Transient ischemic attack Decreased body weight Long eyelashes Cupped ear Atrioventricular canal defect Long palpebral fissure Natal tooth Central hypotonia Neonatal hypoglycemia Eyelid coloboma Short columella Depressed nasal tip Telangiectasia Generalized joint laxity Hepatic fibrosis Lethargy Pancytopenia Repeated pneumothoraces Prematurely aged appearance Aortic root aneurysm Pulmonary artery stenosis Heart block Aortic dissection Raynaud phenomenon Right ventricular hypertrophy Upper airway obstruction Subglottic stenosis Uterine prolapse Bowel diverticulosis Aortic rupture Motor delay Infantile spasms Abnormality of the skeletal system Syndactyly Deeply set eye Cleft lip Broad forehead Cleft upper lip Oral cleft Narrow forehead Broad thumb Sandal gap Cutaneous syndactyly Tented upper lip vermilion Sparse eyebrow Abnormal heart valve morphology Emphysema 2-3 toe syndactyly Dilatation Abnormality of the dentition Ptosis Flexion contracture Optic atrophy Blindness Jaundice Developmental regression Cerebral visual impairment Cystic hygroma Double outlet right ventricle Tethered cord Fatigue Respiratory failure Heart murmur Dyspnea Skin rash Joint hyperflexibility Ventricular hypertrophy Mitral regurgitation Abnormality of the face Bronchiectasis Hoarse voice Venous thrombosis Systemic lupus erythematosus Redundant skin Aortic aneurysm Stridor Trigonocephaly Broad hallux Oligohydramnios Hyperhomocystinemia Hypertension Cerebral atrophy Neutropenia Aciduria Pulmonary arterial hypertension Tachypnea Bell-shaped thorax Methylmalonic aciduria Homocystinuria Abnormal posturing Horizontal ribs Methylmalonic acidemia Decreased methylcobalamin Narrow philtrum Decreased adenosylcobalamin Decreased methionine synthase activity Hepatomegaly Intrauterine growth retardation Edema Splenomegaly Hepatosplenomegaly Abnormality of the kidney Short philtrum Small for gestational age Cirrhosis Abnormal bleeding Asthma Micrognathia Oval face High anterior hairline Pes planus Large forehead Achalasia Short 2nd finger Laterally extended eyebrow Oral aversion Downslanted palpebral fissures Frontal bossing Talipes equinovarus Respiratory insufficiency Hypoplasia of the corpus callosum Retrognathia Coarse facial features Neonatal hypotonia Broad columella Talipes Smooth philtrum Renal cyst Growth hormone deficiency Mitral valve prolapse Renal dysplasia Pointed chin Narrow palate Delayed ability to walk Inverted nipples Low hanging columella Mitral stenosis Gastrointestinal dysmotility Ossifying fibroma


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