Low-set ears, and Dilatation

Diseases related with Low-set ears and Dilatation

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


Top matches:

Medium match PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER); PBD3A


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

Medium match NEPHRONOPHTHISIS 3; NPHP3


NEPHRONOPHTHISIS 3; NPHP3 Is also known as nph3

Related symptoms:

  • Low-set ears
  • Anemia
  • Respiratory insufficiency
  • Renal insufficiency
  • Dilatation


SOURCES: OMIM MESH MENDELIAN

More info about NEPHRONOPHTHISIS 3; NPHP3

Medium match COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 25


Combined oxidative phosphorylation defect type 25 is a rare mitochondrial oxidative phosphorylation disorder with decreased respiratory complex I and IV enzyme activities, characterized by hypotonia, global developmental delay, neonatal onset of progressive pectus carinatum without other skeletal abnormalities, poor growth, sensorineural hearing loss, dysmorphic features and brain abnormalities such as cerebral atrophy, quadriventricular dilatation and thin corpus callosum posteriorly.

COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 25 Is also known as coxpd25

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Growth delay


SOURCES: OMIM ORPHANET MENDELIAN

More info about COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 25

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Other less relevant matches:

Medium match AUTOSOMAL RECESSIVE POLYCYSTIC KIDNEY DISEASE


Autosomal recessive polycystic kidney disease (ARPKD) is an inherited disorder characterised by the development of cysts affecting the collecting ducts. It is frequently associated with hepatic involvement.

AUTOSOMAL RECESSIVE POLYCYSTIC KIDNEY DISEASE Is also known as polycystic kidney and hepatic disease 1|polycystic kidney disease, infantile, type i|pkhd1|arpkd|ar-pkd|polycystic kidney disease, autosomal recessive|polycystic kidney disease 4 with or without hepatic disease|pkd3, formerly

Related symptoms:

  • Micrognathia
  • Hypertension
  • Hepatomegaly
  • Ventricular septal defect
  • Respiratory insufficiency


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE POLYCYSTIC KIDNEY DISEASE

Medium match FOWLER SYNDROME


The proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome is a rare, autosomal recessive, usually prenatally lethal disorder characterized by hydranencephaly, a distinctive glomerular vasculopathy in the central nervous system and retina, and diffuse ischemic lesions of the brain stem, basal ganglia, and spinal cord with calcifications. It is usually diagnosed by ultrasound between 26 and 33 weeks' gestation (summary by Meyer et al., 2010). Rarely, affected individuals may survive, but are severely impaired with almost no neurologic development (Kvarnung et al., 2016).

FOWLER SYNDROME Is also known as epv|cerebral proliferative glomeruloid vasculopathy|fowler syndrome|proliferative vasculopathy and hydranencephaly/hydrocephaly|hydranencephaly, fowler type|hydrocephaly/hydranencephaly due to cerebral vasculopathy|encephaloclastic proliferative vasculopa

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Growth delay


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about FOWLER SYNDROME

Medium match AUTOSOMAL RECESSIVE SPONDYLOMETAPHYSEAL DYSPLASIA, MÉGARBANÉ TYPE


Autosomal recessive spondylometaphyseal dysplasia, Mégarbané type is a rare, primary bone dysplasia characterized by intrauterine growth retardation, pre- and postnatal disproportionate short stature with short, rhizomelic limbs, facial dysmorphism, a short neck and small thorax. Hypotonia, cardiomegaly and global developmetal delay have also been associated. Several radiographic findings have been reported, including ribs with cupped ends, platyspondyly, square iliac bones, horizontal and trident acetabula, hypoplastic ischia, and delayed epiphyseal ossification.

AUTOSOMAL RECESSIVE SPONDYLOMETAPHYSEAL DYSPLASIA, MÉGARBANÉ TYPE Is also known as chondrodysplasia, megarbane-dagher-melki type

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE SPONDYLOMETAPHYSEAL DYSPLASIA, MÉGARBANÉ TYPE

Medium match CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB; ARCL1B


Autosomal recessive cutis laxa type IB (ARCL1B) is characterized by the presence of severe systemic connective tissue abnormalities, including emphysema, cardiopulmonary insufficiency, birth fractures, arachnodactyly, and fragility of blood vessels. All symptoms refer to disturbed elastic fiber formation (summary by Hoyer et al., 2009).For a complete phenotypic description and a discussion of genetic heterogeneity of autosomal recessive cutis laxa, see ARCL1A (OMIM ).

Related symptoms:

  • Generalized hypotonia
  • Microcephaly
  • Hypertelorism
  • Micrognathia
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB; ARCL1B

Low match CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT SYNDROME WITH OR WITHOUT HEARING LOSS, ABNORMAL EARS, OR DEVELOPMENTAL DELAY; CAKUTHED


CAKUTHED is an autosomal dominant highly pleiotropic developmental disorder characterized mainly by variable congenital anomalies of the kidney and urinary tract, sometimes resulting in renal dysfunction or failure, dysmorphic facial features, and abnormalities of the outer ear, often with hearing loss. Most patients have global developmental delay (summary by Heidet et al., 2017 and Slavotinek et al., 2017).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT SYNDROME WITH OR WITHOUT HEARING LOSS, ABNORMAL EARS, OR DEVELOPMENTAL DELAY; CAKUTHED

Low match NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 1; NSLH1


Noonan syndrome-like disorder with loose anagen hair is characterized by facial features similar to those observed in Noonan syndrome (OMIM ), including hypertelorism, ptosis, downslanting palpebral fissures, low-set posteriorly angulated ears, and overfolded pinnae. In addition, patients display short stature, frequently with growth hormone (GH; see {139250}) deficiency; cognitive deficits; relative macrocephaly; small posterior fossa resulting in Chiari I malformation; hypernasal voice; cardiac defects, especially dysplasia of the mitral valve and septal defects; and ectodermal abnormalities, in which the most characteristic feature is the hair anomaly, including easily pluckable, sparse, thin, slow-growing hair (summary by Bertola et al., 2017). Genetic Heterogeneity of Noonan Syndrome-Like Disorder with Loose Anagen HairNSLH2 (OMIM ) is caused by mutation in the PPP1CB gene (OMIM ) on chromosome 2p23.

NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 1; NSLH1 Is also known as tosti syndrome|nslh

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 1; NSLH1

Low match NEONATAL MARFAN SYNDROME


Neonatal Marfan syndrome is a rare, severe and life-threatening genetic disease, occuring during the neonatal period, characterized by classical Marfan syndrome manifestations in addition to facial dysmorphism (megalocornea, iridodonesis, ectopia lentis, crumpled ears, loose redundant skin giving a 'senile' facial appearance), flexion joint contractures, pulmonary emphysema, and a severe, rapidly progressive cardiovascular disease (including ascending aortic dilatation and severe mitral and/or tricuspid valve insufficiency). Additionally, skeletal manifestations (arachnodactyly, dolichostenomelia, pectus deformities) are also associated.

NEONATAL MARFAN SYNDROME Is also known as neonatal mfs

Related symptoms:

  • Micrognathia
  • Muscular hypotonia
  • Low-set ears
  • Flexion contracture
  • Feeding difficulties


SOURCES: ORPHANET MENDELIAN

More info about NEONATAL MARFAN SYNDROME

Top 5 symptoms//phenotypes associated to Low-set ears and Dilatation

Symptoms // Phenotype % cases
Generalized hypotonia Common - Between 50% and 80% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Respiratory insufficiency Uncommon - Between 30% and 50% cases
Prominent forehead Uncommon - Between 30% and 50% cases
Wide nasal bridge Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Low-set ears and Dilatation. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Oligohydramnios Short stature Feeding difficulties Micrognathia Hypertelorism Growth delay Abnormality of the kidney Stage 5 chronic kidney disease Abnormal cardiac septum morphology Microcephaly Renal insufficiency Flexion contracture Depressed nasal bridge Anteverted nares Downslanted palpebral fissures

Rare Symptoms - Less than 30% cases


Ventricular septal defect Hypertension Growth hormone deficiency Atrial septal defect Congestive heart failure Scarring Chronic kidney disease Seizures Intellectual disability Macrocephaly Emphysema Arachnodactyly Abnormal facial shape Joint hypermobility Spina bifida Cutis laxa Deep philtrum Aortic root aneurysm Hydrocephalus Small for gestational age Microtia Short neck Strabismus Motor delay Hypoplasia of the corpus callosum Polyhydramnios Pectus carinatum Joint laxity Tubulointerstitial fibrosis High forehead Hepatic fibrosis Renal cyst Hearing impairment Polycystic kidney dysplasia Hyperechogenic kidneys Hepatomegaly Short nose Long philtrum Bradycardia Pulmonary artery aneurysm Generalized arterial tortuosity Pulmonary artery dilatation Long toe Scoliosis Abnormal echocardiogram Cryptorchidism Delayed speech and language development Mitral valve prolapse Hypoxemia Epicanthus Prominence of the premaxilla Megalocornea Micropenis Autism Thin upper lip vermilion Abnormality of the nervous system Autistic behavior Poor speech Long face Vesicoureteral reflux Enlarged thorax Narrow naris Multiple joint dislocation Narrow palpebral fissure Abnormality of the pinna Crumpled ear Talipes calcaneovarus Bulbous nose Recurrent fractures Convex nasal ridge Overgrowth Congenital diaphragmatic hernia Abnormal cardiac ventricle morphology Joint dislocation Aortic aneurysm Intussusception Iridodonesis Tricuspid valve prolapse Soft skin Abnormality of the vasculature Arterial stenosis Pulmonary insufficiency Ascending tubular aorta aneurysm Ambiguous genitalia Biventricular hypertrophy Arterial tortuosity Renal agenesis Recurrent urinary tract infections Lipoatrophy Slow-growing hair Eczema Sparse scalp hair Long eyelashes Hyperpigmentation of the skin Relative macrocephaly Nasal speech Redundant skin Heart murmur Arnold-Chiari type I malformation Megalencephaly Deep palmar crease Small posterior fossa Ichthyosis Loose anagen hair Ectopia lentis Adducted thumb Muscular hypotonia Mitral regurgitation Blue sclerae Hyporeflexia Deeply set eye Dolichocephaly High myopia High, narrow palate Webbed neck Proptosis Renal hypoplasia Thickened helices Renal dysplasia Decreased testicular size Long fingers Narrow face Tricuspid regurgitation Horseshoe kidney Spina bifida occulta Abnormality of the urinary system Neonatal respiratory distress Ectopic kidney Poor eye contact Anteverted ears Attention deficit hyperactivity disorder Uterus didelphys Hypoplastic helices Urethral valve Bifid ureter Decreased numbers of nephrons Ptosis Cognitive impairment Abnormal heart morphology Posteriorly rotated ears Hyperactivity Hypertrophic cardiomyopathy Pulmonic stenosis Cardiomegaly Inguinal hernia Portal hypertension Respiratory failure Macrotia Hepatosplenomegaly Low-set, posteriorly rotated ears Abnormality of the liver Pulmonary hypoplasia Dehydration Depressed nasal ridge Cholestasis Abnormal lung morphology Renal hypoplasia/aplasia Enlarged kidney Respiratory distress Multiple renal cysts Chronic lung disease Atelectasis Esophageal varix Cholangitis Congenital hepatic fibrosis Pancreatic cysts Hepatic cysts Biliary tract abnormality Portal fibrosis Hypersplenism Hematemesis Splenomegaly Intraventricular hemorrhage Periportal fibrosis Polyuria Areflexia Feeding difficulties in infancy Flat face Epiphyseal stippling Generalized neonatal hypotonia Anemia Rod-cone dystrophy Nephropathy Situs inversus totalis Polydipsia Cone-shaped epiphysis Nephronophthisis Preeclampsia Tubular atrophy Enuresis Tubulointerstitial abnormality Renal corticomedullary cysts Aplasia of the bladder Failure to thrive Sensorineural hearing impairment Cerebellar atrophy Cerebral atrophy Constipation Gastroesophageal reflux Increased body weight Potter facies Hypoplasia of the ear cartilage Pectus excavatum Tachypnea Platyspondyly Narrow chest Micromelia Wide nose Round face Limb undergrowth Pulmonary arterial hypertension Large fontanelles Wide anterior fontanel Short ribs Wormian bones Short long bone Muscular hypotonia of the trunk Hypokinesia Bell-shaped thorax Delayed epiphyseal ossification Spondylometaphyseal dysplasia Metaphyseal cupping Hypoplastic ischia Squared iliac bones Severe platyspondyly Dysplastic sacrum Iliac crest serration High palate Hernia Postnatal growth retardation Delayed skeletal maturation Azotemia Cerebral calcification Absence of renal corticomedullary differentiation Cleft palate Visual impairment Intrauterine growth retardation Skeletal muscle atrophy Ventriculomegaly Abnormality of metabolism/homeostasis Cerebellar hypoplasia Agenesis of corpus callosum Arthrogryposis multiplex congenita Premature birth Dandy-Walker malformation Decreased fetal movement Frontal bossing Hypsarrhythmia Microretrognathia Lissencephaly Pterygium Akinesia Hypoplasia of the brainstem Cystic hygroma Fetal akinesia sequence Hydranencephaly Limb joint contracture Multiple pterygia Severe hydrocephalus Increased arm span



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