Low-set ears, and Short palpebral fissure

Diseases related with Low-set ears and Short palpebral fissure

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

Top matches:

Related symptoms:

  • Intellectual disability
  • Short stature
  • Microcephaly
  • Growth delay
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 27; MRD27

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

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

Other less relevant matches:

OROFACIODIGITAL SYNDROME XVI; OFD16 Is also known as oral-facial-digital syndrome, type xvi|ofds xvi

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Muscular hypotonia
  • Ptosis


SOURCES: OMIM MENDELIAN

More info about OROFACIODIGITAL SYNDROME XVI; OFD16

Chromosome 1q43-q44 deletion syndrome is characterized by moderate to severe mental retardation, limited or no speech, and variable but characteristic facial features, including round face, prominent forehead, flat nasal bridge, hypertelorism, epicanthal folds, and low-set ears. Other features may include hypotonia, poor growth, microcephaly, agenesis of the corpus callosum, and seizures. The phenotype is variable, and not all features are observed in all patients, which may be explained in some cases by incomplete penetrance or variable expressivity (summary by Ballif et al., 2012).Patients with autosomal dominant mental retardation-22 have a phenotype similar to that in patients with chromosome 1q43-q44 deletion syndrome (de Munnik et al., 2014).

Related symptoms:

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


SOURCES: MESH OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 22; MRD22

Microcephaly-micromelia syndrome (MIMIS) is a severe autosomal recessive disorder that usually results in death in utero or in the perinatal period. Affected individuals have severe growth retardation with microcephaly and variable malformations of the limbs, particularly the upper limbs. Defects include radial ray anomalies, malformed digits, and clubfeet (summary by Evrony et al., 2017).

Related symptoms:

  • Microcephaly
  • Growth delay
  • Micrognathia
  • Cleft palate
  • Low-set ears


SOURCES: OMIM MESH MENDELIAN

More info about MICROCEPHALY-MICROMELIA SYNDROME; MIMIS

OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE Is also known as odod, autosomal recessive|oculodentoosseous dysplasia, autosomal recessive|oddd, autosomal recessive

Related symptoms:

  • Global developmental delay
  • Short stature
  • Failure to thrive
  • Micrognathia
  • Cataract


SOURCES: OMIM MESH MENDELIAN

More info about OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE

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

Congenital symmetric circumferential skin creases is characterized by the folding of excess skin, which leads to ringed creases, primarily of the limbs. Affected individuals also exhibit intellectual disability, cleft palate, and dysmorphic features (summary by Isrie et al., 2015).For a discussion of genetic heterogeneity of congenital symmetric circumferential skin creases, see CSCSC1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL, 2; CSCSC2

Autism spectrum disorder due to AUTS2 deficiency is a rare genetic syndromic intellectual disability characterized by global developmental delay and borderline to severe intellectual disability, autism spectrum disorder with obsessive behavior, stereotypies, hyperactivity but frequently friendly and affable personality, feeding difficulties, short stature, muscular hypotonia, microcephaly, characteristic dysmorphic features (hypertelorism, high arched eyebrows, ptosis, deep and/or broad nasal bridge, broad/prominent nasal tip, short and/or upturned philtrum, narrow mouth, and micrognathia), and skeletal anomalies (kyphosis and/or scoliosis, arthrogryposis, slender habitus and extremities). Other clinical features may include hernias, congenital heart defects, cryptorchidism and seizures.

AUTISM SPECTRUM DISORDER DUE TO AUTS2 DEFICIENCY Is also known as asd due to auts2 deficiency|auts2 syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTISM SPECTRUM DISORDER DUE TO AUTS2 DEFICIENCY

Top 5 symptoms//phenotypes associated to Low-set ears and Short palpebral fissure

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Micrognathia Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Abnormal facial shape Delayed speech and language development Generalized hypotonia Hypertelorism Epicanthus Agenesis of corpus callosum Cleft palate Seizures Motor delay Microphthalmia Small for gestational age Narrow mouth Ptosis Deeply set eye Short philtrum Highly arched eyebrow Failure to thrive Microcornea Brachycephaly Upslanted palpebral fissure Growth delay Wide nasal bridge Abnormality of the pinna Depressed nasal bridge Strabismus Short nose Long philtrum Posteriorly rotated ears Long nose Downslanted palpebral fissures

Rare Symptoms - Less than 30% cases

Hearing impairment Thin upper lip vermilion Microretrognathia Wide intermamillary distance Wide nose Cryptorchidism Spasticity Thin vermilion border Hypoplasia of the corpus callosum Feeding difficulties Telecanthus Low-set, posteriorly rotated ears Intellectual disability, severe Cognitive impairment Intestinal malrotation Myopia Wide nasal base Wide mouth Astigmatism Blepharophimosis Underdeveloped nasal alae Intellectual disability, mild Thick vermilion border Cataract Short neck Clinodactyly Abnormality of the skeletal system Scoliosis Muscular hypotonia Midface retrusion Macrocephaly Frontal bossing Sparse hair Polydactyly Anteverted nares Craniosynostosis Intrauterine growth retardation Prominent nasal tip Broad long bones Short tibia Hyperostosis Basal ganglia calcification Narrow nose Mild global developmental delay Spinal cord compression Cranial hyperostosis Cutaneous syndactyly of toes Large earlobe Humeroradial synostosis Hypoplasia of teeth Short foot Delayed skeletal maturation Forearm undergrowth Dental crowding Hypoplasia of the maxilla Triangular face Dental malocclusion Overgrowth Fine hair Sparse scalp hair Large fontanelles Small hand Aplasia of the ulna Toe syndactyly Abnormality of dental enamel Sparse eyelashes Abnormality of dental morphology Delayed eruption of teeth Syndactyly Abnormality of the dentition Persistent pupillary membrane Sclerocornea Macrodontia of permanent maxillary central incisor Broad neck Pectus excavatum Osteopenia Pes planus Microtia Carious teeth Flat face Short palm Tapered finger Microdontia Scrotal hypoplasia Overfolded helix Ureterocele Corneal astigmatism Flexion contracture Hyperreflexia Atrial septal defect Hypertonia Kyphosis Hyperactivity Autism Autistic behavior Arthrogryposis multiplex congenita Poor speech Thick eyebrow Cerebral palsy Hypospadias Jejunal atresia Fifth finger distal phalanx clinodactyly Cerebellar vermis hypoplasia 4-5 finger syndactyly 2-4 toe cutaneous syndactyly Hydrocephalus Myopathy Cerebellar hypoplasia Hydronephrosis Coloboma Prominent nasal bridge Malabsorption Iris coloboma Prominent nose Renal hypoplasia Hypoplastic iris stroma Optic nerve hypoplasia Preaxial polydactyly Short columella Oligodactyly Duodenal atresia Ectopia pupillae Sex reversal Peters anomaly Intestinal atresia Accessory spleen Retinal vascular tortuosity Bilateral renal hypoplasia Absent radius Muscular hypotonia of the trunk Cystic hygroma Hypertension Obsessive-compulsive behavior Large hands Long fingers Overweight Turricephaly Long foot Nystagmus Sensorineural hearing impairment Visual impairment Brachydactyly Stereotypy Cerebellar atrophy Alopecia Rod-cone dystrophy Diabetes mellitus Glaucoma Hypothyroidism High forehead Broad nasal tip Delayed myelination Exotropia Low posterior hairline Progressive hearing impairment Underdeveloped supraorbital ridges Short distal phalanx of finger Everted lower lip vermilion Full cheeks Growth hormone deficiency Small nail Hypertrichosis Open mouth Long eyelashes Short chin Proportionate short stature Hypotelorism Abnormality of the nares Hypoplastic fifth toenail Abnormality of the columella High palate Proptosis Broad forehead Arachnodactyly Bulbous nose Sleep disturbance Narrow forehead Broad thumb Corneal dystrophy Absent thumb Talipes equinovarus Downturned corners of mouth Bifid uvula Round face Absence seizures Widely spaced teeth Partial agenesis of the corpus callosum Prominent metopic ridge Bruxism Long upper lip Respiratory failure Neurological speech impairment Narrow chest Talipes Micromelia Convex nasal ridge Limb undergrowth Oligohydramnios Aplasia/Hypoplasia of the corpus callosum Abnormality of the hand Cortical gyral simplification Smooth philtrum Protruding ear Congenital hypothyroidism Retinopathy Broad columella Broad distal phalanx of finger Ataxia Ventricular septal defect Ventriculomegaly Hernia Inguinal hernia Retrognathia Apnea Inability to walk Prominent forehead Postaxial polydactyly Heterotopia Oculomotor apraxia Molar tooth sign on MRI Hamartoma Teratoma Hamartoma of tongue Sacrococcygeal teratoma Dystonia Absent speech Decreased palmar creases


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