Low-set ears, and Corneal opacity

Diseases related with Low-set ears and Corneal opacity

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


Top matches:

Medium match HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE 6


Hereditary sensory and autonomic neuropathy type VI is a severe autosomal recessive disorder characterized by neonatal hypotonia, respiratory and feeding difficulties, lack of psychomotor development, and autonomic abnormalities including labile cardiovascular function, lack of corneal reflexes leading to corneal scarring, areflexia, and absent axonal flare response after intradermal histamine injection (summary by Edvardson et al., 2012).For a discussion of genetic heterogeneity of hereditary sensory and autonomic neuropathy, see HSAN1 (OMIM ).

HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE 6 Is also known as familial dysautonomia with contractures|hereditary sensory and autonomic neuropathy type vi|hsan6|hsan vi

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE 6

Medium match STROMME SYNDROME; STROMS


Stromme syndrome is an autosomal recessive congenital disorder affecting multiple systems with features of a ciliopathy. Affected individuals typically have some type of intestinal atresia, variable ocular abnormalities, microcephaly, and sometimes involvement of other systems, including renal and cardiac. In some cases, the condition is lethal in early life, whereas other patients show normal survival with or without mild cognitive impairment (summary by Filges et al., 2016).

STROMME SYNDROME; STROMS Is also known as jejunal atresia with microcephaly and ocular anomalies|apple peel syndrome with microcephaly and ocular anomalies|ciliary dyskinesia, primary, 31, formerly|cild31, formerly

Related symptoms:

  • Intellectual disability
  • Microcephaly
  • Hypertelorism
  • Micrognathia
  • Cleft palate


SOURCES: MESH OMIM MENDELIAN

More info about STROMME SYNDROME; STROMS

Medium match ARRHINIA-CHOANAL ATRESIA-MICROPHTHALMIA SYNDROME


Arhinia-choanal atresia-microphthalmia is a malformation disorder characterized by complete or incomplete absence of nose (arrhinia), choanal atresia, microphthalmia, anophthalmia and cleft or high palate.

ARRHINIA-CHOANAL ATRESIA-MICROPHTHALMIA SYNDROME Is also known as arhinia, choanal atresia, microphthalmia, and hypogonadotropic hypogonadism

Related symptoms:

  • Hearing impairment
  • Hypertelorism
  • Cleft palate
  • Cataract
  • Cryptorchidism


SOURCES: ORPHANET OMIM MENDELIAN

More info about ARRHINIA-CHOANAL ATRESIA-MICROPHTHALMIA SYNDROME

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Other less relevant matches:

Medium match CUTIS LAXA, AUTOSOMAL DOMINANT 3; ADCL3


Autosomal dominant cutis laxa-3 is characterized by thin skin with visible veins and wrinkles, cataract or corneal clouding, clenched fingers, pre- and postnatal growth retardation, and moderate intellectual disability. In addition, patients exhibit a combination of muscular hypotonia with brisk muscle reflexes (Fischer-Zirnsak et al., 2015).For a general phenotypic description and discussion of genetic heterogeneity of autosomal dominant cutis laxa, see ARCL1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about CUTIS LAXA, AUTOSOMAL DOMINANT 3; ADCL3

Medium match MECKEL SYNDROME


Meckel syndrome (MKS) is a rare, lethal, genetic, multiple congenital anomaly disorder characterized by the triad of brain malformation (mainly occipital encephalocele), large polycystic kidneys, and polydactyly, as well as associated abnormalities that may include cleft lip/palate, cardiac and genital anomalies, central nervous system (CNS) malformations, liver fibrosis, and bone dysplasia.

MECKEL SYNDROME Is also known as meckel-gruber syndrome

Related symptoms:

  • Microcephaly
  • Hypertelorism
  • Micrognathia
  • Cleft palate
  • Cataract


SOURCES: ORPHANET MENDELIAN

More info about MECKEL SYNDROME

Medium match ABLEPHARON MACROSTOMIA SYNDROME


Ablepharon macrostomia syndrome is an extremely rare multiple congenital malformation syndrome characterized by the association of ablepharon, macrostomia, abnormal external ears, syndactyly of the hands and feet, skin findings (such as dry and coarse skin or redundant folds of skin), absent or sparse hair, genital malformations and developmental delay (in 2/3 of cases). Other reported manifestations include malar hypoplasia, absent or hypoplastic nipples, umbilical abnormalities and growth retardation. It is a mainly sporadic disorder, although a few familial cases having been reported, and it displays significant clinical overlap with Fraser syndrome (see this term).

Related symptoms:

  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Growth delay
  • Hypertelorism


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about ABLEPHARON MACROSTOMIA SYNDROME

Medium match SANJAD-SAKATI SYNDROME


Sanjad-Sakati syndrome (SSS), also known as hypoparathyroidism - intellectual disability-dysmorphism, is a rare multiple congenital anomaly syndrome, mainly occurring in the Middle East and the Arabian Gulf countries, characterized by intrauterine growth restriction at birth, microcephaly, congenital hypoparathyroidism (that can cause hypocalcemic tetany or seizures in infancy), severe growth retardation, typical facial features (long narrow face, deep-set eyes, beaked nose, floppy and large ears, long philtrum, thin lips and micrognathia), and mild to moderate intellectual deficiency. Ocular findings (i.e. nanophthalmos, retinal vascular tortuosity and corneal opacification/clouding) and superior mesenteric artery syndrome have also been reported. Although SSS shares the same locus with the autosomal recessive form of Kenny-Caffey syndrome (see this term), the latter differs from SSS by its normal intelligence and skeletal features.

SANJAD-SAKATI SYNDROME Is also known as richardson-kirk syndrome|hrd syndrome|sanjad-sakati syndrome|hypoparathyroidism-intellectual disability-dysmorphism syndrome|hypoparathyroidism, congenital, associated with dysmorphism, growth retardation, and developmental delay|sss|hypoparathyroidism wi

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about SANJAD-SAKATI SYNDROME

Medium match PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER); PBD5A


The peroxisomal biogenesis disorder (PBD) Zellweger syndrome (ZS) is an autosomal recessive multiple congenital anomaly syndrome. 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 5 (CG5, equivalent to CG10 and CGF) have mutations in the PEX2 gene. For information on the history of PBD complementation groups, see {214100}.

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER); PBD5A

Medium match WALKER-WARBURG SYNDROME


Walker-Warburg Syndrome (WWS) is a rare form of congenital muscular dystrophy associated with brain and eye abnormalities.

WALKER-WARBURG SYNDROME Is also known as hard syndrome|cerebroocular dysplasia-muscular dystrophy syndrome|hydrocephalus, agyria, and retinal dysplasia|walker-warburg syndrome or muscle-eye-brain disease, pomt1-related|wws|hydrocephalus-agyria-retinal dysplasia syndrome|cod-md syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about WALKER-WARBURG SYNDROME

Medium match CONGENITAL INTRAUTERINE INFECTION-LIKE SYNDROME


Congenital intrauterine infection-like syndrome is characterised by the presence of microcephaly and intracranial calcifications at birth accompanied by neurological delay, seizures and a clinical course similar to that seen in patients after intrauterine infection with Toxoplasma gondii, Rubella, Cytomegalovirus, Herpes simplex (so-called TORCH syndrome), or other agents, despite repeated tests revealing the absence of any known infectious agent.

CONGENITAL INTRAUTERINE INFECTION-LIKE SYNDROME Is also known as baraitser-reardon syndrome|bilateral band-like calcification with polymicrogyria|blc-pmg|blcpmg|band-like calcification with simplified gyration and polymicrogyria|microcephaly-intracranial calcification-intellectual disability syndrome|pseudo-torch syndr

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about CONGENITAL INTRAUTERINE INFECTION-LIKE SYNDROME

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

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Cataract Common - Between 50% and 80% cases
Hypertelorism Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Generalized hypotonia

Uncommon Symptoms - Between 30% and 50% cases


Growth delay

Common Symptoms - More than 50% cases


Microphthalmia

Uncommon Symptoms - Between 30% and 50% cases


Micrognathia Seizures Cryptorchidism Cleft palate Intrauterine growth retardation Talipes equinovarus Micropenis High palate Visual impairment Hernia Flexion contracture Encephalocele Microcornea Iris coloboma Anophthalmia Coloboma Hypoplasia of penis Cerebellar hypoplasia Myopathy Hydrocephalus Frontal bossing Polymicrogyria Congenital cataract Areflexia Failure to thrive Ventriculomegaly

Rare Symptoms - Less than 30% cases


Pachygyria Muscular dystrophy Hepatomegaly Microtia Dental malocclusion Hypoplasia of the maxilla Thin vermilion border Cleft lip Sloping forehead Camptodactyly Intellectual disability, severe Hypogonadism Inguinal hernia Optic atrophy Low-set, posteriorly rotated ears Splenomegaly Spinal canal stenosis Ambiguous genitalia Opacification of the corneal stroma Lissencephaly Prominent forehead Intellectual disability, profound Macrocephaly Oligohydramnios Muscular hypotonia Thin skin Postnatal growth retardation Depressed nasal bridge Myopia Anteverted nares Cutis laxa Jaundice Hepatosplenomegaly Macrogyria Hearing impairment Protruding ear Dandy-Walker malformation Posteriorly rotated ears Bifid uvula Fever Cerebellar vermis hypoplasia Wide mouth Feeding difficulties Abnormality of the pinna Long philtrum Hydronephrosis Optic nerve hypoplasia Deeply set eye Atresia of the external auditory canal Astigmatism Sclerocornea Hypoplasia of the corpus callosum High forehead Peters anomaly Short chin Accessory spleen Abnormal facial shape Muscular hypotonia of the trunk Agenesis of corpus callosum Clitoral hypertrophy Palpebral edema Cubitus valgus Thin upper lip vermilion Metatarsus adductus Abnormality of the helix Severe short stature Recurrent respiratory infections Delayed skeletal maturation Epiphyseal stippling Generalized neonatal hypotonia Optic nerve dysplasia Abnormality of the dentition Renal cortical microcysts Brushfield spots Intrahepatic biliary dysgenesis Stippled chondral calcification Muscle weakness Short stature Skeletal muscle atrophy Long uvula Small for gestational age Decreased circulating cortisol level Poor suck Patchy osteosclerosis Hypoparathyroidism Severe intrauterine growth retardation Tetany Increased CSF protein Aplasia/Hypoplasia affecting the eye External ear malformation Intestinal obstruction Abnormality of dental enamel Recurrent bacterial infections Cellular immunodeficiency Hypocalcemia Hypocalcemic seizures Congenital hypoparathyroidism Convex nasal ridge Short palm Epicanthus Growth hormone deficiency Delayed myelination Abnormal heart morphology Short foot Small hand Feeding difficulties in infancy Flat face Single transverse palmar crease Hyperphosphatemia Round face Pigmentary retinopathy Large fontanelles Renal cyst Microretrognathia Blindness Aplasia/Hypoplasia involving the skeletal musculature Cardiomyopathy Hyperreflexia Anemia Spasticity Nystagmus Abnormal aldolase level Thick cerebral cortex Hypoplastic male external genitalia Renal insufficiency Chorioretinal dysplasia Abnormal lactate dehydrogenase activity Severe hydrocephalus Metatarsus valgus Abnormality of the cerebellar vermis Abnormal levels of creatine kinase in blood Hypoglycosylation of alpha-dystroglycan Hypertonia Thrombocytopenia Posterior fossa cyst Tetraplegia Decreased liver function Postnatal microcephaly Tetraparesis Status epilepticus Cerebral calcification Neuronal loss in central nervous system Gliosis Abnormality of movement Cerebral cortical atrophy Generalized tonic-clonic seizures Purpura Spastic tetraparesis Petechiae Skin rash Abnormality of the liver Hypertrophic cardiomyopathy Elevated hepatic transaminase Meningoencephalocele Remnants of the hyaloid vascular system Dilatation Retinal dystrophy Absent hair Severe muscular hypotonia Cerebral visual impairment Renal dysplasia Heterotopia Specific learning disability Retinal detachment Oral cleft Congenital muscular dystrophy Cleft upper lip Anal atresia Abnormality of the cerebral white matter Retinopathy Proptosis Glaucoma Elevated serum creatine phosphokinase Hyporeflexia Congenital contracture Hypoplasia of the brainstem Excessive daytime sleepiness Abnormality of the optic nerve Agyria Cerebellar cyst Type II lissencephaly Cerebellar dysplasia Muscle fiber splitting Aqueductal stenosis Buphthalmos Abnormal cortical gyration Abnormality of neuronal migration Retinal dysplasia Bilateral cleft lip Megalocornea Retinal atrophy Submucous cleft hard palate Occipital encephalocele Absent septum pellucidum Congenital glaucoma Ventral hernia Underdeveloped nasal alae Microtia, third degree Reduced number of teeth Lacrimation abnormality Hyposmia Hypoplastic labia majora Agenesis of permanent teeth Preauricular pit Limb-girdle muscular dystrophy Anosmia Diastema Scrotal hypoplasia Hypogonadotrophic hypogonadism Choanal atresia Primary amenorrhea Broad nasal tip Delayed puberty Synophrys Hypoplasia of teeth Lacrimal duct stenosis Midface retrusion Autistic behavior Adducted thumb Aortic regurgitation Spontaneous abortion Wormian bones Triangular face Hip dislocation Broad forehead Osteopenia Abnormality of the sense of smell Autism Strabismus Scoliosis Absent paranasal sinuses Aplasia of the nose Frontal encephalocele Aplasia/Hypoplasia involving the nose Hypospadias Edema Brisk reflexes Sensory neuropathy Blotching pigmentation of the skin Limited hip extension Alacrima Corneal scarring Hand clenching Bradycardia Open mouth Tachycardia Cognitive impairment Scarring Apnea Neonatal hypotonia Hyperhidrosis Respiratory insufficiency Peripheral neuropathy Pain Ptosis Wide nasal bridge Corneal astigmatism Duodenal atresia Jejunal atresia Hypoplastic iris stroma Bilateral renal hypoplasia Retinal vascular tortuosity Intestinal atresia Sex reversal Ectopia pupillae Short columella Polydactyly Preaxial polydactyly Short palpebral fissure Renal hypoplasia Prominent nose Intestinal malrotation Malabsorption Prominent nasal bridge Unilateral renal agenesis Delayed cranial suture closure Ablepharon Abnormality of the genital system Absent eyebrow Ectropion Sparse eyebrow Redundant skin Sacral dimple Abnormality of the outer ear Cutaneous syndactyly Omphalocele Absent eyelashes Hypertrichosis Fine hair Interphalangeal joint contracture of finger Microdontia Short metacarpal Ectodermal dysplasia Abnormality of skin pigmentation Hypoplastic nipples Abnormality of the mouth Toe syndactyly Absent nipple Cryptophthalmos Abnormality of female external genitalia Short upper lip Abnormal nasal morphology Overbite Excessive wrinkled skin Breast hypoplasia Aplasia/Hypoplasia of the nipples Shallow orbits High-frequency hearing impairment Labial hypoplasia Conical tooth Abnormal hair pattern Corneal erosion Abnormality of finger Hypoplasia of the zygomatic bone Dry skin Finger syndactyly Reduced subcutaneous adipose tissue Depressed nasal ridge Male pseudohermaphroditism Anencephaly Preaxial hand polydactyly Aplasia/Hypoplasia of the corpus callosum Multicystic kidney dysplasia Situs inversus totalis Bowing of the long bones Postaxial hand polydactyly Asplenia Full cheeks Talipes Abnormality of cardiovascular system morphology Small foramen magnum Dermal translucency Calcaneovalgus deformity Premature skin wrinkling Postaxial foot polydactyly Furrowed tongue Camptodactyly of finger Lobar holoprosencephaly Sparse hair Umbilical hernia Syndactyly Malar flattening Short nose Delayed speech and language development Cystic liver disease True hermaphroditism Congenital hepatic fibrosis Pancreatic fibrosis Aplasia/Hypoplasia of the tongue Urethral atresia Abnormal chorioretinal morphology Aplasia/Hypoplasia of the iris Pancreatic cysts Ureteral duplication Congenital microcephaly



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