Low-set ears, and Bulbous nose

Diseases related with Low-set ears and Bulbous nose

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


Top matches:

High match OROFACIAL CLEFT 15; OFC15


Related symptoms:

  • Hypertelorism
  • Abnormal facial shape
  • Cryptorchidism
  • Low-set ears
  • Epicanthus


SOURCES: OMIM MENDELIAN

More info about OROFACIAL CLEFT 15; OFC15

High match MENTAL RETARDATION, AUTOSOMAL RECESSIVE 61; MRT61


MRT61 is an autosomal recessive neurodevelopmental disorder characterized by delayed psychomotor development, moderate to severe intellectual disability, and variable dysmorphic facial features. More severely affected patients may develop refractory seizures and have brain abnormalities, including hypoplasia of the corpus callosum (summary by Alwadei et al., 2016).

MENTAL RETARDATION, AUTOSOMAL RECESSIVE 61; MRT61 Is also known as alwadei syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL RECESSIVE 61; MRT61

High match PYCR2-RELATED MICROCEPHALY-PROGRESSIVE LEUKOENCEPHALOPATHY


PYCR2-related microcephaly-progressive leukoencephalopathy is a rare, genetic, syndromic intellectual disability disorder characterized by progressive postnatal microcephaly, cerebral hypomyelination and severe psychomotor developmental delayed with absent speech, as well as axial hypotonia, appendicular hypertonia with hyperextensibility of the wrists and ankles, hyperreflexia, severe muscle wasting and failure to thrive. Associated craniofacial dysmorphism includes triangular facies with bitemporal narrowing, down- or upslanting palpebral fissures, malar hypoplasia, large malformed ears with overfolded helices, upturned bulbous nose, long smooth philtrum and thin vermilion borders.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about PYCR2-RELATED MICROCEPHALY-PROGRESSIVE LEUKOENCEPHALOPATHY

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Other less relevant matches:

High match 6Q16 DELETION SYNDROME


Deletion 6q16 syndrome is a Prader-Willi like syndrome characterized by obesity, hyperphagia, hypotonia, small hands and feet, eye/vision anomalies, and global developmental delay.

6Q16 DELETION SYNDROME Is also known as del(6)(q16)|prader-willi-like syndrome due to deletion 6q16|monosomy 6q16

Related symptoms:

  • Global developmental delay
  • Short stature
  • Microcephaly
  • Hypertelorism
  • Nystagmus


SOURCES: ORPHANET MENDELIAN

More info about 6Q16 DELETION SYNDROME

High match BAINBRIDGE-ROPERS SYNDROME; BRPS


Bainbridge-Ropers syndrome (BRPS) is a developmental disorder characterized by delayed psychomotor development, severe intellectual disability with poor or absent speech, hypotonia, feeding difficulties, poor growth, and dysmorphic facial features (summary by Srivastava et al., 2016).

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about BAINBRIDGE-ROPERS SYNDROME; BRPS

High match 15Q14 MICRODELETION SYNDROME


15q14 microdeletion syndrome is a recently described syndrome characterized by developmental delay, short stature and facial dysmorphism.

15Q14 MICRODELETION SYNDROME Is also known as del(15)(q14)|monosomy 15q14

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about 15Q14 MICRODELETION SYNDROME

High 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

High match FOCAL FACIAL DERMAL DYSPLASIA TYPE III


Focal facial dermal dysplasia type III (FFDD3) is a rare focal facial facial dysplasia (FFDD; see this term), characterized primarily by congenital bitemporal scar-like depressions and a typical, but variable facial dysmorphism, which may include distichiasis (upper lids) or lacking eyelashes, slanted eyebrows and a flattened and/or bulbous nasal tip and other features such as a low frontal hairline, sparse hair, redundant skin, epicanthal folds, low-set dysplastic ears, blepharitis and conjunctivitis.

FOCAL FACIAL DERMAL DYSPLASIA TYPE III Is also known as focal facial dermal dysplasia 3, setleis type|setleis syndrome|ffdd type iii|ffdd3|brauer-setleis syndrome

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Nystagmus
  • Micrognathia
  • Strabismus


SOURCES: OMIM ORPHANET MENDELIAN

More info about FOCAL FACIAL DERMAL DYSPLASIA TYPE III

High match BARBER-SAY SYNDROME


Barber Say syndrome (BSS) is a rare ectodermal dysplasia with neonatal onset characterized by congenital generalized hypertrichosis, atrophic skin, ectropion and microstomia.

BARBER-SAY SYNDROME Is also known as bss|hypertrichosis-atrophic skin-ectropion-macrostomia syndrome|hypertrichosis, atrophic skin, ectropion, and macrostomia

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Growth delay
  • Hypertelorism


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about BARBER-SAY SYNDROME

High match NON-PROGRESSIVE CEREBELLAR ATAXIA WITH INTELLECTUAL DISABILITY


Non-progressive cerebellar ataxia with intellectual deficit is a rare subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term) characterized by the onset in infancy of cerebellar ataxia, neonatal hypotonia (in some), mild developmental delay and, in later life, intellectual disability. Less common features include dysarthria, dysmetria and dysmorphic facial features (long face, bulbous nose long philtrum, thick lower lip and pointed chin).

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about NON-PROGRESSIVE CEREBELLAR ATAXIA WITH INTELLECTUAL DISABILITY

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

Symptoms // Phenotype % cases
Global developmental delay Very Common - Between 80% and 100% cases
Hypertelorism Common - Between 50% and 80% cases
Abnormal facial shape Common - Between 50% and 80% cases
Generalized hypotonia 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 Bulbous nose. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Seizures

Uncommon Symptoms - Between 30% and 50% cases


Upslanted palpebral fissure Strabismus High palate Microcephaly Wide nasal bridge Highly arched eyebrow Anteverted nares Downslanted palpebral fissures Nystagmus Delayed speech and language development Scoliosis Epicanthus Short stature Depressed nasal ridge Narrow forehead Arachnodactyly Hypoplasia of the corpus callosum Macrocephaly Long face Long philtrum Micrognathia Short philtrum Broad nasal tip Failure to thrive Prominent nasal bridge

Rare Symptoms - Less than 30% cases


Short nose Inability to walk Redundant skin Absent speech Cerebral cortical atrophy Abnormality of the pinna Smooth philtrum Aplasia/Hypoplasia of the skin Thin vermilion border Wide mouth Thick vermilion border Triangular face Everted lower lip vermilion Broad forehead Muscular hypotonia Myopia Brachycephaly Sparse hair Frontal bossing Autism Delayed ability to walk Pointed chin Cleft palate Autistic behavior Growth delay Hearing impairment Deeply set eye Spasticity Aggressive behavior Hyperreflexia Talipes equinovarus Babinski sign Sparse eyebrow Posteriorly rotated ears Hyperactivity Protruding ear Cleft lip Ectropion Mandibular prognathia EEG abnormality Muscular hypotonia of the trunk Postnatal microcephaly Brain atrophy Unsteady gait Progressive microcephaly Tapered finger Low anterior hairline Atresia of the external auditory canal Dry skin Hirsutism High, narrow palate Dermal atrophy Hyperextensible skin Cutis laxa Generalized hirsutism Abnormality of the face Delayed eruption of teeth Abnormality of the genital system Ectodermal dysplasia Dental malocclusion Sparse and thin eyebrow Microtia Underdeveloped nasal alae Abnormality of the skin Microdontia Hypertrichosis Decreased muscle mass Congenital horizontal nystagmus Telecanthus Abnormal hair pattern Hypopigmented skin patches Midface retrusion Cryptorchidism Multiple cafe-au-lait spots Prematurely aged appearance Aplasia cutis congenita Abnormal eyelash morphology Absent eyelashes Sparse lateral eyebrow Periorbital fullness Conductive hearing impairment Lacrimation abnormality Abnormality of the upper urinary tract Dimple chin Distichiasis Abnormality of the sacroiliac joint Sparse lower eyelashes Aplasia/Hypoplasia of the eyebrow Short neck Hypospadias Rigidity Cupped ear Gingival fibromatosis Long nose Large forehead Abnormal pyramidal sign Dysmetria Wide nose Generalized myoclonic seizures Memory impairment Intention tremor Thick lower lip vermilion Infantile muscular hypotonia Brisk reflexes Palpebral edema Abnormal cortical gyration Gastroesophageal reflux Impaired social interactions Positive Romberg sign Nonprogressive cerebellar ataxia Abnormal social behavior Poor motor coordination Narrow nasal tip Mesiodens Short ear Hippocampal atrophy Hypoplastic hippocampus Neonatal hypotonia Narrow mouth Hypoplastic nipples Abnormality of female external genitalia Shawl scrotum Inverted nipples Taurodontia Skin tags Absent nipple Hernia Sparse or absent eyelashes Breast aplasia Broad alveolar ridges Generalized hypertrichosis Mild hearing impairment Gait ataxia Frontal hirsutism Ablepharon Abnormality of male external genitalia Ataxia Dysarthria Tremor Edema Cerebellar atrophy Intellectual disability, mild Constipation Cerebellar hypoplasia Horizontal nystagmus Large hands Downturned corners of mouth Misalignment of teeth Hyponasal speech Palate fistula Short palm Short foot Full cheeks Round face Microretrognathia Polyphagia Narrow nose Agenesis of lateral incisor Clinodactyly of the 5th finger Feeding difficulties Bilateral cleft palate Prominent forehead Pes planus Postnatal growth retardation Euryblepharon Severe global developmental delay Ectropion of lower eyelids High anterior hairline Open mouth Macrotia Obesity Dental crowding Pectus carinatum Long eyelashes Skeletal muscle atrophy Hypsarrhythmia Abnormality of the skeletal system Prominent nose Hypertonia Malar flattening Thick eyebrow Talipes Generalized tonic-clonic seizures Abnormality of cardiovascular system morphology Synophrys Dolichocephaly Joint laxity Leukodystrophy Mutism CNS hypomyelination Overfolded helix Global brain atrophy Long toe Pes cavus Tall stature Short chin Anal atresia Low posterior hairline Single transverse palmar crease Agenesis of corpus callosum Proptosis Craniosynostosis Blepharophimosis Small for gestational age Astigmatism Sleep disturbance Hypotelorism Short palpebral fissure Everted upper lip vermilion Stereotypy Exotropia Obsessive-compulsive behavior Long fingers Overweight Turricephaly Long foot Depressed nasal bridge Hypertension Scarring Sparse eyelashes Biparietal narrowing Trigonocephaly Kyphosis Hypoplasia of the brainstem Disproportionate tall stature Severe postnatal growth retardation Ulnar deviation of the hand Bilateral cleft lip and palate Motor delay Ventricular septal defect Atrial septal defect Abnormality of the dentition Immunodeficiency Acne Inguinal hernia High forehead Bilateral cleft lip Intellectual disability, moderate Low-set, posteriorly rotated ears Abnormal cardiac septum morphology Oral cleft Convex nasal ridge Tented upper lip vermilion Laryngomalacia Segmental myoclonic seizures



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