Low-set ears, and Corneal dystrophy

Diseases related with Low-set ears and Corneal dystrophy

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


Top matches:

Medium match RETINITIS PIGMENTOSA-HEARING LOSS-PREMATURE AGING-SHORT STATURE-FACIAL DYSMORPHISM SYNDROME


SHRF is an autosomal recessive disorder characterized by short stature, brachydactyly, dysmorphic facial features, hearing loss, and visual impairment. Onset of the hearing and visual abnormalities, including retinitis pigmentosa, varies from birth to the second decade. Patients have mild intellectual disability and mild cerebellar atrophy with myelination defects on brain imaging (summary by Di Donato et al., 2016).

RETINITIS PIGMENTOSA-HEARING LOSS-PREMATURE AGING-SHORT STATURE-FACIAL DYSMORPHISM SYNDROME Is also known as retinitis pigmentosa-deafness-premature aging-short stature-facial dysmorphism syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about RETINITIS PIGMENTOSA-HEARING LOSS-PREMATURE AGING-SHORT STATURE-FACIAL DYSMORPHISM SYNDROME

Medium match EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE


Ehlers-Danlos syndrome, kyphoscoliotic type (EDKT) is a form of Ehlers-Danlos syndrome characterized by severe hypotonia and kyphoscoliosis at birth, generalized joint hyperextensibility and ocular globe fragility.

EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE Is also known as eds vi|eds6|ehlers-danlos syndrome, oculoscoliotic type|ehlers-danlos syndrome, ocular-scoliotic type|eds, oculoscoliotic type|eds6a, formerly|nevo syndrome|eds via|ehlers-danlos syndrome, type vi|ehlers-danlos syndrome, type via, formerly|eds, kyphoscoli

Related symptoms:

  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness
  • Muscular hypotonia
  • Cryptorchidism


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE

Low match ISOLATED CLOVERLEAF SKULL SYNDROME


Isolated cloverleaf skull syndrome is a form of craniosynostosis involving multiple sutures (coronal, lambdoidal, sagittal and metopic ) characterized by a trilobular skull of varying severity (frontal towering and bossing, temporal bulging and a flat posterior skull), dysmorphic features (downslanting palpebral fissures, midface hypoplasia, and extreme proptosis) and that is complicated by hydrocephalus, cerebral venous hypertension, developmental delay/intellectual disability and hind brain herniation.

ISOLATED CLOVERLEAF SKULL SYNDROME Is also known as kleeblattschadel|cloverleaf skull

Related symptoms:

  • Cognitive impairment
  • Hydrocephalus
  • Malar flattening
  • Midface retrusion
  • Proptosis


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about ISOLATED CLOVERLEAF SKULL SYNDROME

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Other less relevant matches:

Low 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

Low match MENTAL RETARDATION, X-LINKED 106; MRX106


Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, X-LINKED 106; MRX106

Low match HOLOPROSENCEPHALY 2; HPE2


A rare disorder characterized by the partial separation of the cerebral hemispheres. It is associated with mutations in the SIX3 gene.

Related symptoms:

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


SOURCES: MESH OMIM MENDELIAN

More info about HOLOPROSENCEPHALY 2; HPE2

Low match 5P13 MICRODUPLICATION SYNDROME


5p13 microduplication syndrome is a rare partial autosomal trisomy/tetrasomy characterized by global developmental delay, intellectual disability, autistic behavior, muscular hypotonia, macrocephaly and facial dysmorphism (frontal bossing, short palpebral fissures, low set, dysplastic ears, short or shallow philtrum, high arched or narrow palate, micrognathia). Other associated clinical features include sleep disturbances, seizures, aplasia/hypoplasia of the corpus callosum, skeletal abnormalities (large hands and feet, long fingers and toes, talipes).

5P13 MICRODUPLICATION SYNDROME Is also known as dup(5)(p13)|trisomy 5p13

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about 5P13 MICRODUPLICATION SYNDROME

Low match INTELLECTUAL DISABILITY-FACIAL DYSMORPHISM SYNDROME DUE TO SETD5 HAPLOINSUFFICIENCY


Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency is a rare, syndromic intellectual disability characterized by intellectual disability of various severity, hypotonia, feeding difficulties, dysmorphic features, autism and behavioral issues. Growth retardation, congenital heart anomalies, gastrointestinal and genitourinary defects have been rarely associated.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Scoliosis


SOURCES: ORPHANET OMIM MENDELIAN

More info about INTELLECTUAL DISABILITY-FACIAL DYSMORPHISM SYNDROME DUE TO SETD5 HAPLOINSUFFICIENCY

Low match FGFR2-RELATED BENT BONE DYSPLASIA


FGFR2-related bent bone dysplasia is a rare, genetic, lethal, primary bone dysplasia characterized by dysmorphic craniofacial features (low-set, posteriorly rotated ears, hypertelorism, megalophtalmos, flattened and hypoplastic midface, micrognathia), hypomineralization of the calvarium, craniosynostosis, hypoplastic clavicles and pubis, and bent long bones (particularly involving the femora), caused by germline mutations in the FGFR2 gene. Prematurely erupted fetal teeth, osteopenia, hirsutism, clitoromegaly, gingival hyperplasia, and hepatosplenomegaly with extramedullary hematopoesis may also be associated.

FGFR2-RELATED BENT BONE DYSPLASIA Is also known as perinatal lethal bent bone dysplasia

Related symptoms:

  • Hypertelorism
  • Micrognathia
  • Abnormal facial shape
  • Low-set ears
  • Brachydactyly


SOURCES: ORPHANET OMIM MENDELIAN

More info about FGFR2-RELATED BENT BONE DYSPLASIA

Low match DIARRHEA 3, SECRETORY SODIUM, CONGENITAL, WITH OR WITHOUT OTHER CONGENITAL ANOMALIES; DIAR3


DIARRHEA 3, SECRETORY SODIUM, CONGENITAL, WITH OR WITHOUT OTHER CONGENITAL ANOMALIES; DIAR3 Is also known as diarrhea 3, secretory sodium, congenital, syndromic|csd|sodium diarrhea, congenital

Related symptoms:

  • Short stature
  • Hypertelorism
  • Micrognathia
  • Cleft palate
  • Low-set ears


SOURCES: OMIM MENDELIAN

More info about DIARRHEA 3, SECRETORY SODIUM, CONGENITAL, WITH OR WITHOUT OTHER CONGENITAL ANOMALIES; DIAR3

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

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
Astigmatism Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Micrognathia Scoliosis Hypertelorism Strabismus Abnormal facial shape Nystagmus Muscular hypotonia Macrocephaly Craniosynostosis Midface retrusion Malar flattening Upslanted palpebral fissure Thin upper lip vermilion Anteverted nares Wide nasal bridge Microcephaly Myopia Slender finger

Rare Symptoms - Less than 30% cases


Proptosis Growth delay Brachycephaly Cleft palate Kyphosis Abnormality of metabolism/homeostasis Obsessive-compulsive behavior Osteopenia Skeletal dysplasia Neonatal hypotonia Dental crowding Hyperlordosis Visual impairment Agenesis of corpus callosum Arachnodactyly Bifid uvula Talipes equinovarus Hypotelorism Exotropia Single transverse palmar crease Microcornea Gastrointestinal hemorrhage Hypospadias Respiratory insufficiency Delayed speech and language development Epicanthus Motor delay Brachydactyly Short nose Long philtrum Short stature Short chin Glaucoma Open mouth Low-set, posteriorly rotated ears Sparse hair Short palpebral fissure Narrow forehead High forehead Depressed nasal bridge Flexion contracture High palate Drooling Cryptorchidism Constipation Secretory diarrhea Median cleft lip and palate Single median maxillary incisor Retrognathia Cyclopia Single ventricle Proboscis Aplasia of the nose Hypoplastic philtrum Absent nasal septal cartilage Hypermetropia Anterior pituitary agenesis Clinodactyly of the 5th finger Frontal bossing Clinodactyly Blepharophimosis Chronic constipation Adrenal hypoplasia Periventricular leukomalacia Cleft lip Bicuspid aortic valve Finger clinodactyly Microphthalmia Amblyopia Ptosis Decreased testicular size Thick vermilion border Spastic diplegia Coloboma Cerebellar hypoplasia Broad forehead Supernumerary nipple High hypermetropia Wide nose Holoprosencephaly Diabetes insipidus Cataract Narrow nasal bridge Submucous cleft hard palate Short philtrum Low anterior hairline Small for gestational age Metabolic acidosis Overfolding of the superior helices Metopic depression Steep acetabular roof Incomplete ossification of pubis Abnormality of the periosteum Vomiting Diarrhea Syndactyly Acidosis Polyhydramnios Abnormality of the liver Toe syndactyly Protracted diarrhea Anal atresia Abdominal distention Hypoplastic pubic bone Intestinal malrotation Choanal atresia Abnormal intestine morphology Cutis laxa Hyponatremia Keratitis Preauricular pit Mild short stature Abnormality of digit Corneal erosion Optic nerve coloboma Rectovaginal fistula Villous atrophy Ureteral duplication Decreased calvarial ossification Hypoplastic ischia Bulbous nose Impaired mastication Sleep disturbance Low posterior hairline Stereotypy Large hands Long fingers Overweight Turricephaly Long foot Abnormality of the skeletal system Autism Synophrys Poor speech Smooth philtrum Downturned corners of mouth Hepatosplenomegaly Extramedullary hematopoiesis Hirsutism Abnormality of the outer ear Clitoral hypertrophy Bowing of the legs Natal tooth Short clavicles Megalocornea Bell-shaped thorax Coronal craniosynostosis Abnormally large globe Congenital stationary night blindness Abnormality of the lower limb Decreased skull ossification Lethal skeletal dysplasia Gingival overgrowth Recurrent corneal erosions Ventricular septal defect Retinal detachment Osteoporosis Kyphoscoliosis Pes planus Joint laxity Retinopathy Pectus carinatum Dolichocephaly Joint hyperflexibility Talipes Unsteady gait Joint hypermobility Bruising susceptibility Polyneuropathy Inguinal hernia Generalized muscle weakness Abnormal bleeding Sepsis Esotropia Overgrowth Mitral valve prolapse Oligohydramnios Decreased fetal movement High myopia Blue sclerae Thin skin Tall stature Insulin resistance Prominent forehead Pectus excavatum Spina bifida Delayed myelination Hearing impairment Sensorineural hearing impairment Hypertension Cerebellar atrophy Intellectual disability, mild Alopecia Rod-cone dystrophy Posteriorly rotated ears Diabetes mellitus Hypothyroidism Deeply set eye Broad nasal tip Broad thumb Hernia Progressive hearing impairment Congenital hypothyroidism Broad columella Wide nasal base Broad distal phalanx of finger Muscle weakness Gait disturbance Respiratory distress Edema Blindness Myopathy Congestive heart failure Dilatation Joint contracture of the hand Recurrent pneumonia Blotching pigmentation of the skin Pain Spontaneous rupture of the globe Progressive congenital scoliosis Cognitive impairment Hydrocephalus Finger syndactyly Limitation of joint mobility Convex nasal ridge Abnormal form of the vertebral bodies Amniotic constriction ring Cloverleaf skull Craniofacial dysostosis Elbow ankylosis Feeding difficulties Arterial rupture Peripheral neuropathy Fever Areflexia Hyperhidrosis Apnea Scarring Tachycardia Sensory neuropathy Bradycardia Hand clenching Corneal scarring Alacrima Limited hip extension Molluscoid pseudotumors Decreased pulmonary function Increased body weight Aortic root aneurysm Hyperbilirubinemia Joint dislocation Spina bifida occulta Torticollis Aortic regurgitation Hyperextensible skin Intracranial hemorrhage Aortic aneurysm Heart murmur Disproportionate tall stature Atrophic scars Abnormality of the hip bone Keratoconus Soft skin Moderate myopia Atypical scarring of skin Aortic dissection Generalized joint laxity Bladder diverticulum Subcutaneous hemorrhage Lens luxation Thoracic kyphoscoliosis Keloids Dural ectasia Arterial dissection Palmoplantar cutis laxa Premature rupture of membranes Wrist drop Intractable diarrhea



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