Low-set ears, and Feeding difficulties in infancy

Diseases related with Low-set ears and Feeding difficulties in infancy

In the following list you will find some of the most common rare diseases related to Low-set ears and Feeding difficulties in infancy that can help you solving undiagnosed cases.

Top matches:

Combined oxidative phosphorylation defect type 2 is a rare mitochondrial disorder due to a defect in mitochondrial protein synthesis characterized by severe intrauterine growth retardation, neonatal limb edema and redundant skin on the neck (hydrops), developmental brain defects (corpus callosum agenesis, ventriculomegaly), brachydactyly, dysmorphic facial features with low set ears, severe intractable neonatal lactic acidosis with lethargy, hypotonia, absent spontaneous movements and fatal outcome. Markedly decreased activity of complex I, II + III and IV in muscle and liver have been determined.

COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 2 Is also known as coxpd2|corpus callosum, agenesis of, with dysmorphism and fatal lactic acidosis

Related symptoms:

  • Abnormal facial shape
  • Low-set ears
  • Brachydactyly
  • Ventriculomegaly
  • Edema


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 2

The peroxisomal biogenesis disorder (PBD) Zellweger syndrome (ZS) is an autosomal recessive multiple congenital anomaly syndrome resulting from disordered peroxisome biogenesis. Affected children present in the newborn period with profound hypotonia, seizures, and inability to feed. Characteristic craniofacial anomalies, eye abnormalities, neuronal migration defects, hepatomegaly, and chondrodysplasia punctata are present. Children with this condition do not show any significant development and usually die in the first year of life (summary by Steinberg et al., 2006).For a complete phenotypic description and a discussion of genetic heterogeneity of Zellweger syndrome, see {214100}.Individuals with PBDs of complementation group 3 (CG3) have mutations in the PEX12 gene. For information on the history of PBD complementation groups, see {214100}.

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Low-set ears
  • Hepatomegaly
  • Wide nasal bridge


SOURCES: MESH OMIM MENDELIAN

More info about PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER); PBD3A

Other less relevant matches:

Noonan syndrome is a developmental disorder characterized by reduced postnatal growth, dysmorphic facial features, cardiac defects, and variable cognitive defects (summary by Sarkozy et al., 2009).

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Hypertelorism


SOURCES: OMIM MENDELIAN

More info about NOONAN SYNDROME 7; NS7

Chronic idiopathic intestinal pseudoobstruction (CIIP) is caused by severe abnormality of gastrointestinal motility. Patients have recurrent symptoms and signs of intestinal obstruction without any mechanical lesion (Auricchio et al., 1996).Some primary forms of CIIP are caused by defects of enteric neuronal cells: see Hirschsprung disease (see, e.g., HSCR1; {142623}) and autosomal recessive visceral neuropathy (OMIM ) (Tanner et al., 1976).

INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CHRONIC IDIOPATHIC, X-LINKED Is also known as intestinal pseudoobstruction, neuronal, chronic idiopathic, with central nervous system involvement|ciipx|ipox|ciip, x-linked|congenital idiopathic intestinal pseudoobstruction|ciip

Related symptoms:

  • Seizures
  • Hypertelorism
  • Failure to thrive
  • Abnormal facial shape
  • Low-set ears


SOURCES: MESH OMIM MENDELIAN

More info about INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CHRONIC IDIOPATHIC, X-LINKED

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Cryptorchidism
  • Low-set ears


SOURCES: OMIM MENDELIAN

More info about GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES; GRDF

Congenital myasthenic syndrome associated with AChR deficiency is a disorder of the postsynaptic neuromuscular junction (NMJ) clinically characterized by early-onset muscle weakness with variable severity. Electrophysiologic studies show low amplitude of the miniature endplate potential (MEPP) and current (MEPC) resulting from deficiency of AChR at the endplate. Treatment with cholinesterase inhibitors or amifampridine may be helpful (summary by Engel et al., 2015).For a discussion of genetic heterogeneity of CMS, see CMS1A (OMIM ).

MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY; CMS11 Is also known as cms1e, formerly|myasthenic syndrome, congenital, ie, formerly|cms ie, formerly

Related symptoms:

  • Generalized hypotonia
  • Hypertelorism
  • Micrognathia
  • Muscle weakness
  • Ptosis


SOURCES: MESH OMIM MENDELIAN

More info about MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY; CMS11

Joubert syndrome is characterized by a specific hindbrain formation, hypotonia, cerebellar ataxia, dysregulated breathing patterns, and developmental delay. Ciliary dysfunction is a key factor in the pathogenesis (Coene et al., 2009).For a phenotypic description and a discussion of genetic heterogeneity of Joubert syndrome, see {213300}.

Related symptoms:

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


SOURCES: OMIM MESH MENDELIAN

More info about JOUBERT SYNDROME 10; JBTS10

Auriculocondylar syndrome (ARCND), also known as 'question-mark ear syndrome' or 'dysgnathia complex,' is an autosomal dominant craniofacial malformation syndrome characterized by highly variable mandibular anomalies, including mild to severe micrognathia, often with temporomandibular joint ankylosis, cleft palate, and a distinctive ear malformation that consists of separation of the lobule from the external ear, giving the appearance of a question mark. Other frequently described features include prominent cheeks, cupped and posteriorly rotated ears, preauricular tags, and microstomia (summary by Rieder et al., 2012).For a discussion of genetic heterogeneity of auriculocondylar syndrome, see ARCND1 (OMIM ).

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Micrognathia
  • Cleft palate


SOURCES: OMIM MENDELIAN

More info about AURICULOCONDYLAR SYNDROME 2; ARCND2

cblF type methylmalonic acidemia with homocystinuria is a form of methylmalonic acidemia with homocystinuria (see this term), an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures.

METHYLMALONIC ACIDEMIA WITH HOMOCYSTINURIA TYPE CBLF Is also known as cobalamin, defect in lysosomal release of|cobalamin f defect|combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblf|cblf|vitamin b12 storage disease|vitamin b12 lysosomal release defect|methylmalonic aciduria due to vitamin b12-rele

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about METHYLMALONIC ACIDEMIA WITH HOMOCYSTINURIA TYPE CBLF

Top 5 symptoms//phenotypes associated to Low-set ears and Feeding difficulties in infancy

Symptoms // Phenotype % cases
Generalized hypotonia Common - Between 50% and 80% cases
Feeding difficulties Common - Between 50% and 80% cases
Seizures Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Low-set ears and Feeding difficulties in infancy. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Abnormal facial shape Poor suck Hypertelorism Macrocephaly Wide nasal bridge Failure to thrive Neonatal hypotonia Patent ductus arteriosus

Rare Symptoms - Less than 30% cases

Micrognathia Acidosis Prominent forehead Respiratory distress Apnea High palate Downslanted palpebral fissures Short stature Thrombocytopenia Narrow forehead Hirsutism Epicanthus Flexion contracture Motor delay Absent speech Frontal bossing Lethargy Dental malocclusion Small for gestational age Ataxia Encephalocele Deep philtrum Molar tooth sign on MRI Easy fatigability Enlarged cisterna magna Frequent falls Narrow palpebral fissure Arthrogryposis multiplex congenita Infra-orbital crease Hearing impairment Cleft palate Decreased fetal movement Posteriorly rotated ears Cerebellar vermis hypoplasia Thick vermilion border Intellectual disability, profound Recurrent infections Long face Fatigable weakness Gastroesophageal reflux Weak cry Prominent occiput Growth delay Multiple joint contractures Rod-cone dystrophy Gowers sign Generalized muscle weakness Polydactyly EEG abnormality Deeply set eye Polymicrogyria Falls Postaxial polydactyly Narrow mouth Ankylosis Low-set, posteriorly rotated ears Juvenile rheumatoid arthritis Neutropenia Aciduria Abnormality of the skin Pancytopenia Psychosis Incoordination Rheumatoid arthritis Macrocytic anemia Megaloblastic anemia Stomatitis Skin rash Methylmalonic aciduria Homocystinuria Methylmalonic acidemia Glossitis Hyperhomocystinemia Decreased methylcobalamin Megaloblastic bone marrow Decreased adenosylcobalamin Decreased methionine synthase activity Cystathioninuria Microtia Developmental regression Full cheeks Overfolding of the superior helices Round face Dental crowding Preauricular skin tag Cupped ear Bulbar palsy Glossoptosis Upper airway obstruction Central apnea Long penis Snoring Speech articulation difficulties Arthritis Temporomandibular joint ankylosis Hypoplastic superior helix Mandibular condyle hypoplasia Question mark ear Mandibular condyle aplasia Cleft at the superior portion of the pinna Muscular hypotonia Anemia Abnormal heart morphology Thin upper lip vermilion Respiratory tract infection Ambiguous genitalia Mandibular prognathia Generalized tonic-clonic seizures Hyperreflexia Dysarthria Tremor Hypoplasia of the corpus callosum Encephalopathy Babinski sign Difficulty walking Spastic paraplegia Febrile seizures Spasticity Hypotelorism Broad-based gait Postnatal microcephaly Severe muscular hypotonia Drooling Progressive spasticity Abnormal CNS myelination Nasogastric tube feeding in infancy Delayed speech and language development Microcephaly Cognitive impairment Redundant skin Brachydactyly Ventriculomegaly Edema Agenesis of corpus callosum Elevated hepatic transaminase Lactic acidosis Metabolic acidosis Increased serum lactate Hypokinesia Generalized neonatal hypotonia Redundant neck skin Hepatomegaly Dilatation Areflexia High forehead Flat face Bradycardia Polycystic kidney dysplasia Epiphyseal stippling Scoliosis Depressed nasal bridge Respiratory insufficiency Small hand Intestinal pseudo-obstruction Increased mean platelet volume Congenital shortened small intestine Increased size of the mandible Cryptorchidism Hypospadias Delayed skeletal maturation Retrognathia Triangular face Arthropathy Decreased body weight Finger clinodactyly Relative macrocephaly Pterygium Melanocytic nevus Unilateral cryptorchidism Penoscrotal hypospadias Muscle weakness Ptosis Volvulus Multiple lipomas Dysphagia Mild short stature Abnormality of the skeletal system Short neck Atrial septal defect Pectus carinatum Dolichocephaly Pulmonic stenosis Webbed neck Hyperpigmentation of the skin Thickened helices Spastic diplegia Peripheral neuropathy Vomiting Hydronephrosis Smooth philtrum Abdominal distention Intestinal malrotation Aganglionic megacolon Pyloric stenosis Intestinal obstruction Cystathioninemia


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