Sensorineural hearing impairment, and Bulbous nose

Diseases related with Sensorineural hearing impairment and Bulbous nose

In the following list you will find some of the most common rare diseases related to Sensorineural hearing impairment and Bulbous nose that can help you solving undiagnosed cases.


Top matches:

Medium match X-LINKED INTELLECTUAL DISABILITY, SHASHI TYPE


X-linked intellectual disability, Shashi type is characterised by moderate intellectual deficit, obesity, macroorchidism and a characteristic facies (large ears, a prominent lower lip and puffy eyelids). It has been described in nine boys from two families. Transmission is X-linked and the causative gene has been localised to the q21.3-q27 region of the X chromosome.

X-LINKED INTELLECTUAL DISABILITY, SHASHI TYPE Is also known as shashi x-linked mental retardation syndrome|syndromic x-linked intellectual disability type 11|smrxs|mental retardation, x-linked, shashi type

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Sensorineural hearing impairment
  • Delayed speech and language development


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY, SHASHI TYPE

Medium match FACIAL DYSMORPHISM-DEVELOPMENTAL DELAY-BEHAVIORAL ABNORMALITIES SYNDROME DUE TO WAC POINT MUTATION


DeSanto-Shinawi syndrome is a rare neurodevelopmental disorder characterized by global developmental delay apparent in infancy or early childhood and associated with characteristic dysmorphic facial features, such as broad forehead, depressed nasal bridge with bulbous nasal tip, and deep-set eyes. Most patients also have gastrointestinal and mild ocular abnormalities, as well as behavioral problems (summary by DeSanto et al., 2015).

FACIAL DYSMORPHISM-DEVELOPMENTAL DELAY-BEHAVIORAL ABNORMALITIES SYNDROME DUE TO WAC POINT MUTATION Is also known as developmental delay, behavioral abnormalities, facial dysmorphism, and ocular abnormalities

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Hypertelorism


SOURCES: OMIM ORPHANET MENDELIAN

More info about FACIAL DYSMORPHISM-DEVELOPMENTAL DELAY-BEHAVIORAL ABNORMALITIES SYNDROME DUE TO WAC POINT MUTATION

Medium match HYDROCEPHALUS, CONGENITAL, 2, WITH OR WITHOUT BRAIN OR EYE ANOMALIES; HYC2


Congenital hydrocephalus-2 is a congenital disorder with onset in utero. Affected individuals have hydrocephalus with variably dilated ventricles and variable neurologic sequelae. Some individuals have other brain abnormalities, including lissencephaly, thinning of the corpus callosum, and neuronal heterotopia. Most patients have delayed motor development and some have delayed intellectual development and/or seizures. Additional congenital features, including cardiac septal defects, iris coloboma, and nonspecific dysmorphic features, may be observed. Some patients die in utero, in infancy, or in early childhood, whereas others have long-term survival (summary by Shaheen et al., 2017).For a discussion of genetic heterogeneity of congenital hydrocephalus, see {233600}.

HYDROCEPHALUS, CONGENITAL, 2, WITH OR WITHOUT BRAIN OR EYE ANOMALIES; HYC2 Is also known as hydrocephalus, nonsyndromic, autosomal recessive 2, formerly

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about HYDROCEPHALUS, CONGENITAL, 2, WITH OR WITHOUT BRAIN OR EYE ANOMALIES; HYC2

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Other less relevant matches:

Medium match LACRIMOAURICULODENTODIGITAL SYNDROME; LADD


Lacrimoauriculodentodigital syndrome is a multiple congenital anomaly disorder mainly affecting lacrimal glands and ducts, salivary glands and ducts, ears, teeth, and distal limb segments (summary by Rohmann et al., 2006).

LACRIMOAURICULODENTODIGITAL SYNDROME; LADD Is also known as ladd syndrome|levy-hollister syndrome

Related symptoms:

  • Short stature
  • Hearing impairment
  • Hypertelorism
  • Sensorineural hearing impairment
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about LACRIMOAURICULODENTODIGITAL SYNDROME; LADD

Medium match DEAFNESS, ONYCHODYSTROPHY, OSTEODYSTROPHY, MENTAL RETARDATION, AND SEIZURES SYNDROME; DOORS


The DOOR syndrome is an acronym for deafness, onychodystrophy, osteodystrophy, and mental retardation. Cantwell (1975) suggested this designation for the disorder, which can also include triphalangeal thumbs, seizures, and abnormal dermatoglyphics. Inheritance is autosomal recessive.See also DDOD syndrome (OMIM ), which shows autosomal dominant inheritance of congenital deafness and onychodystrophy without mental retardation.

DEAFNESS, ONYCHODYSTROPHY, OSTEODYSTROPHY, MENTAL RETARDATION, AND SEIZURES SYNDROME; DOORS Is also known as digitorenocerebral syndrome|eronen syndrome|drc syndrome|door syndrome|brachydactyly due to absence of distal phalanges

Related symptoms:

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


SOURCES: OMIM MESH MENDELIAN

More info about DEAFNESS, ONYCHODYSTROPHY, OSTEODYSTROPHY, MENTAL RETARDATION, AND SEIZURES SYNDROME; DOORS

Medium match OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA


Otospondylomegaepiphyseal dysplasia (OSMED) is an inborn error of cartilage collagen formation characterized by sensorineural hearing loss, enlarged epiphyses, skeletal dysplasia with disproportionately short limbs, vertebral body anomalies and a characteristic facies.

OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA Is also known as chondrodystrophy with sensorineural deafness|weissenbacher-zweymuller syndrome, formerly|nance-insley syndrome|osmed|nance-sweeney chondrodysplasia|wzs, formerly

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Hypertelorism
  • Micrognathia


SOURCES: OMIM ORPHANET MENDELIAN

More info about OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA

Medium match LETHAL OSTEOSCLEROTIC BONE DYSPLASIA


Lethal osteosclerotic bone dysplasia is defined by generalized osteosclerosis with periosteal bone formation, characteristic facial dysmorphism, brain abnormalities including intracerebral calcifications, and neonatal lethal course.

LETHAL OSTEOSCLEROTIC BONE DYSPLASIA Is also known as raine syndrome|osteosclerotic bone dysplasia, lethal

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Hypertelorism


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about LETHAL OSTEOSCLEROTIC BONE DYSPLASIA

Medium match 1Q21.1 MICRODELETION SYNDROME


1q21.1 microdeletion syndrome is a newly described recurrent deletion syndrome with variable clinical manifestations but without the clinical picture of thrombocytopenia - absent radius (TAR) syndrome.

1Q21.1 MICRODELETION SYNDROME Is also known as monosomy 1q21.1|del(1)(q21)

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about 1Q21.1 MICRODELETION SYNDROME

Medium match MACROTHROMBOCYTOPENIA-LYMPHEDEMA-DEVELOPMENTAL DELAY-FACIAL DYSMORPHISM-CAMPTODACTYLY SYNDROME


Takenouchi-Kosaki syndrome is a highly heterogeneous autosomal dominant complex congenital developmental disorder affecting multiple organ systems. The core phenotype includes delayed psychomotor development with variable intellectual disability, dysmorphic facial features, and cardiac, genitourinary, and hematologic or lymphatic defects, including thrombocytopenia and lymphedema. Additional features may include abnormalities on brain imaging, skeletal anomalies, and recurrent infections. Some patients have a milder disease course reminiscent of Noonan syndrome (see, e.g., NS1, {163950}) (summary by Martinelli et al., 2018).

MACROTHROMBOCYTOPENIA-LYMPHEDEMA-DEVELOPMENTAL DELAY-FACIAL DYSMORPHISM-CAMPTODACTYLY SYNDROME Is also known as takenouchi-kosaki syndrome|macrothrombocytopenia and mental retardation syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about MACROTHROMBOCYTOPENIA-LYMPHEDEMA-DEVELOPMENTAL DELAY-FACIAL DYSMORPHISM-CAMPTODACTYLY SYNDROME

Medium match RENPENNING SYNDROME 1; RENS1


Renpenning syndrome is an X-linked mental retardation syndrome with clinically recognizable features. Affected individuals have microcephaly, short stature, small testes, and dysmorphic facies, including tall narrow face, upslanting palpebral fissures, abnormal nasal configuration, cupped ears, and short philtrum. The nose may appear long or bulbous, with overhanging columella. Less consistent manifestations include ocular colobomas, cardiac malformations, cleft palate, and anal anomalies. Stevenson et al. (2005) proposed that the various X-linked mental retardation syndromes due to PQBP1 mutations be combined under the name of Renpenning syndrome.

RENPENNING SYNDROME 1; RENS1 Is also known as mrxs3|mental retardation, x-linked, syndromic 3|shs|mental retardation, x-linked, renpenning type|golabi-ito-hall syndrome|mental retardation, x-linked 55|mental retardation, x-linked, syndromic 8|mrxs8|mrx55|mental retardation, x-linked, with spastic dip

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about RENPENNING SYNDROME 1; RENS1

Top 5 symptoms//phenotypes associated to Sensorineural hearing impairment and Bulbous nose

Symptoms // Phenotype % cases
Hearing impairment Very Common - Between 80% and 100% cases
Global developmental delay Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Abnormal facial shape Common - Between 50% and 80% cases
Strabismus Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Sensorineural hearing impairment and Bulbous nose. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Hypertelorism

Uncommon Symptoms - Between 30% and 50% cases


Generalized hypotonia

Common Symptoms - More than 50% cases


Long philtrum

Uncommon Symptoms - Between 30% and 50% cases


Intellectual disability Short stature Microcephaly Hydronephrosis Downturned corners of mouth Posteriorly rotated ears Midface retrusion Behavioral abnormality Downslanted palpebral fissures High palate Delayed speech and language development Low-set ears Wide nasal bridge Scoliosis Optic atrophy Protruding ear Microdontia Intrauterine growth retardation Malar flattening Macrocephaly Dandy-Walker malformation Iris coloboma Wide mouth Renal agenesis Abnormal cardiac septum morphology Micrognathia Hydrocephalus Clinodactyly of the 5th finger Hypospadias Mixed hearing impairment Cleft palate Epicanthus Brachycephaly Bilateral sensorineural hearing impairment Feeding difficulties Depressed nasal bridge Myopia Hypoplasia of the corpus callosum Anteverted nares Prominent forehead Cataract Thin upper lip vermilion Coarse facial features Anxiety

Rare Symptoms - Less than 30% cases


Reduced visual acuity Abnormality of the nervous system Respiratory distress Blindness Patent ductus arteriosus Microphthalmia Cryptorchidism Cerebral atrophy Failure to thrive Short philtrum High forehead Conductive hearing impairment Upslanted palpebral fissure Clinodactyly Abnormal heart morphology Inguinal hernia Abnormality of the skin Brachydactyly Short nose High hypermetropia Prominent nose Flexion contracture Abnormality of the skeletal system Ventricular septal defect Flared nostrils Muscular hypotonia Proptosis Hypoplasia of dental enamel Joint stiffness Broad hallux Micromelia Cupped ear Triphalangeal thumb Short phalanx of finger Retinal detachment Depressed nasal ridge Abnormality of the dentition Camptodactyly Ptosis Hernia Hyperactivity Deeply set eye Broad forehead Abnormality of the pinna Coloboma Cerebellar hypoplasia Atrial septal defect Short neck Attention deficit hyperactivity disorder Ventriculomegaly Frontal bossing Sleep disturbance Depressivity Pectus excavatum Joint hypermobility Aggressive behavior Periorbital fullness Wide anterior fontanel Highly arched eyebrow Macrotia Intellectual disability, moderate Everted lower lip vermilion Pulmonary hypoplasia Microretrognathia Synophrys Mandibular prognathia Prominent supraorbital ridges Narrow mouth Cerebellar atrophy Interrupted aortic arch Thrombocytopenia Sleep apnea Transposition of the great arteries Cerebral cortical atrophy Foot polydactyly Truncus arteriosus Broad hallux phalanx Ankyloglossia Absent speech Recurrent infections Ataxia Gingival overgrowth Nystagmus Plagiocephaly Immunodeficiency Narrow palate Increased bone mineral density Hand polydactyly Abnormality of the genitourinary system Protruding tongue Alveolar ridge overgrowth Metaphyseal sclerosis Bilateral choanal atresia Mandibular aplasia Brachyturricephaly Long hallux Median cleft lip and palate Gingival fibromatosis Generalized osteosclerosis Talipes equinovarus Choanal stenosis Osteopetrosis Obstructive sleep apnea Agenesis of corpus callosum Autism Elevated alkaline phosphatase Vesicoureteral reflux Hypoplastic nasal bridge Hypophosphatemia Hydroureter Schizophrenia Broad thumb Coarctation of aorta Short foot Joint laxity Delayed cranial suture closure Thoracic hypoplasia Joint hyperflexibility Natal tooth Toe syndactyly Autistic behavior Craniofacial disproportion Total anomalous pulmonary venous return Pulmonic stenosis Abnormality of the ribs Poor suck Cachexia Narrow face Abnormality of the hair Situs inversus totalis Joint contracture of the hand Renal hypoplasia Tetralogy of Fallot Failure to thrive in infancy Decreased testicular size Triangular face Hypoplasia of the maxilla High, narrow palate Long face Arachnodactyly Anal atresia Paraplegia Nasal speech Chorioretinal coloboma Spastic paraplegia Thin eyebrow Decreased head circumference Narrow foot Round ear Phimosis Moderately short stature Macrodontia Anteverted ears Broad columella Heterotaxy Mild short stature Abnormality of the rib cage Small face Abnormality of the thumb Sparse lateral eyebrow Ankylosis Sprengel anomaly Prominent metopic ridge Spastic diplegia Hypermetropia Sparse hair Smooth philtrum Abnormal intestine morphology Overlapping toe Unilateral renal agenesis Proximal placement of thumb Sparse eyebrow Hypoalbuminemia Tented upper lip vermilion Widely spaced teeth Progressive microcephaly Abnormality of the sternum Lymphedema Exotropia Narrow forehead Webbed neck Dental malocclusion Nevus Ascites Tapered finger Pericardial effusion Abnormality of the periventricular white matter Diabetes mellitus Growth delay Severe short stature Pes cavus Alopecia Intellectual disability, mild Intellectual disability, severe Skeletal muscle atrophy Hyperreflexia Spasticity Eversion of lateral third of lower eyelids Congenital nystagmus Intestinal lymphangiectasia Macrothrombocytopenia Increased mean platelet volume Bowing of the long bones Anomalous pulmonary venous return Protein-losing enteropathy Mild microcephaly Retinal dysplasia Large fontanelles Muscular hypotonia of the trunk Choanal atresia Hyperextensible skin Absent radius Keratoconjunctivitis sicca Abnormality of digit Hypoplasia of the ulna Epiphora Preaxial polydactyly Hypoplasia of the radius Recurrent corneal erosions Abnormality of the outer ear Cutaneous syndactyly Conjunctivitis Finger clinodactyly Split hand Hypodontia Delayed eruption of teeth Xerostomia Nasolacrimal duct obstruction Microtia Duplication of thumb phalanx Hypoplastic lacrimal duct Absence of Stensen duct Nephrosclerosis Lacrimal gland hypoplasia Bilateral triphalangeal thumbs 2-3 finger syndactyly Bilateral radial aplasia Keratoconjunctivitis Absent lacrimal punctum Conical incisor Dacryocystitis Partial duplication of thumb phalanx Delayed eruption of primary teeth Small thenar eminence Alacrima Carious teeth Craniosynostosis Duplication of the distal phalanx of the thumb Astigmatism Motor delay Inverted nipples Agitation Full cheeks Hirsutism Thick eyebrow Constipation Cleft lip Macroorchidism Palpebral edema Narrow palpebral fissure Thick lower lip vermilion Specific learning disability Blepharophimosis Obesity Polyhydramnios Facial asymmetry Telecanthus Abnormal cortical gyration Dilatation Syndactyly Periventricular gray matter heterotopia Severe hydrocephalus Macular hypoplasia Colpocephaly Communicating hydrocephalus Hepatic failure Cortical gyral simplification Relative macrocephaly Lissencephaly Heterotopia Cholestasis Congenital diaphragmatic hernia Intestinal malrotation Corneal perforation Coronal hypospadias Cerebral calcification Disproportionate short stature Vitreoretinopathy Pierre-Robin sequence Meningocele Glossoptosis Synostosis of carpal bones Occipital encephalocele Abnormal joint morphology Enlarged joints Flared metaphysis Epiphyseal dysplasia Short long bone Recurrent pneumonia Rhizomelia Encephalocele Abnormal form of the vertebral bodies Beaking of vertebral bodies Short 5th metacarpal Osteoarthritis Respiratory insufficiency Macroglossia Arthrogryposis multiplex congenita Apnea Retrognathia Dyspnea Respiratory failure Dysphagia Coronal cleft vertebrae Visual impairment Aplasia/Hypoplasia of the capital femoral epiphysis Large tarsal bones Abnormal lacrimal duct morphology Prominent interphalangeal joints Enlarged epiphyses Premature osteoarthritis Abnormality of the metaphysis Lumbar hyperlordosis Radial deviation of the 3rd finger Neonatal hypotonia High myopia Nail dysplasia Polyneuropathy Short distal phalanx of finger Nail dystrophy Respiratory tract infection Recurrent respiratory infections Small nail Hyporeflexia Peripheral neuropathy Hypoplasia of the lacrimal punctum Absent proximal phalanx of thumb Unilateral radial aplasia Lacrimal gland aplasia Aplasia of the parotid gland Hypsarrhythmia Abnormality of the fingernails Limb undergrowth Delayed skeletal maturation Otitis media Short metacarpal Short palm Platyspondyly Hyperlordosis Feeding difficulties in infancy Arthralgia Kyphosis Abnormal dermatoglyphics Profound sensorineural hearing impairment Prominent nasal tip Cystic renal dysplasia Hypoplasia of the iris Severe sensorineural hearing impairment Infantile spasms Anonychia Abnormal hair laboratory examination



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