Sensorineural hearing impairment, and Malar flattening

Diseases related with Sensorineural hearing impairment and Malar flattening

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

Top matches:

Craniofacial-deafness-hand syndrome (CDHS) is an autosomal dominant disorder, described in one family to date, characterized by characteristic facial features (flat facial profile with normal calvarium, hypertelorism, small downslanting palpebral fissures, hypoplastic nose with button tip and slitlike nares, small ''pursed'' mouth), profound sensorineural deafness, and ulnar deviations and contractures of the hand. CDHS is thought to be an allelic variant of Waardenburg syndrome (see this term) that can be distinguished from the latter by its imaging findings and distinct facial features.

CRANIOFACIAL-DEAFNESS-HAND SYNDROME Is also known as sommer-young-wee-frye syndrome|cdhs

Related symptoms:

  • Hearing impairment
  • Hypertelorism
  • Micrognathia
  • Sensorineural hearing impairment
  • Abnormal facial shape


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about CRANIOFACIAL-DEAFNESS-HAND SYNDROME

Otospondylomegaepiphyseal dysplasia (OSMED) is characterized by sensorineural deafness and relatively short extremities with abnormally large knees and elbows but normal total body length. The diagnostic radiologic findings are the enlarged epiphyses combined with a moderate platyspondyly, most marked in the lower thoracic region. There are no ocular abnormalities. Patients have typical facial features, including midface hypoplasia (summary by Giedion et al., 1982). Some patients have osteoarthritis (Brunner et al., 1994).

OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT; OSMEDA Is also known as osmed, heterozygous|weissenbacher-zweymuller syndrome|pierre robin syndrome with fetal chondrodysplasia stickler syndrome, nonocular type, formerly|stl3, formerly|stickler syndrome, type iii, formerly|wzs

Related symptoms:

  • Hearing impairment
  • Micrognathia
  • Sensorineural hearing impairment
  • Cleft palate
  • Myopia


SOURCES: OMIM MENDELIAN

More info about OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT; OSMEDA

Autosomal recessive Stickler syndrome is a rare type of Stickler syndrome (see this term), found in one family to date, caused by a mutation in the COL9A1 gene, and like other dominantly inherited forms of the disease manifesting with opthalmological (myopia, retinal detachment and cataracts), orofacial (micrognathia, midface hypoplasia and cleft palate) auditory (sensorineural hearing loss) and articular (epiphyseal dysplasia) symptoms

Related symptoms:

  • Short stature
  • Micrognathia
  • Sensorineural hearing impairment
  • Cleft palate
  • Cataract


SOURCES: ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE STICKLER SYNDROME

Other less relevant matches:

Osteogenesis imperfecta (OI) comprises a group of connective tissue disorders characterized by bone fragility and low bone mass. The disorder is clinically and genetically heterogeneous. OI type XII is an autosomal recessive form characterized by recurrent fractures, mild bone deformations, generalized osteoporosis, delayed teeth eruption, progressive hearing loss, no dentinogenesis imperfecta, and white sclerae (summary by Lapunzina et al., 2010).

OSTEOGENESIS IMPERFECTA, TYPE XII; OI12 Is also known as oi, type xii

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Micrognathia
  • Sensorineural hearing impairment


SOURCES: OMIM MENDELIAN

More info about OSTEOGENESIS IMPERFECTA, TYPE XII; OI12

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about DIAMOND-BLACKFAN ANEMIA 15 WITH MANDIBULOFACIAL DYSOSTOSIS; DBA15

Stickler syndrome type 3 is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by craniofacial dysmorphism (midface hypoplasia, depressed nasal bridge, small nose with upturned tip, cleft palate, Pierre Robin sequence), bilateral, pronounced sensorineural hearing loss, and skeletal/joint anomalies (including spondyloepiphyseal dysplasia, arthralgia/arthropathy), in the absence of ocular abnormalities.

STICKLER SYNDROME TYPE 3 Is also known as stickler syndrome, vitreous type 2|stickler syndrome, beaded vitreous type|stickler syndrome, non-ocular type

Related symptoms:

  • Hearing impairment
  • Micrognathia
  • Sensorineural hearing impairment
  • Cleft palate
  • Cataract


SOURCES: OMIM ORPHANET MENDELIAN

More info about STICKLER SYNDROME TYPE 3

Choanal atresia - deafness - cardiac defects - dysmorphism syndrome, also known as Burn-McKeown syndrome, is an extremely rare multiple congenital anomaly syndrome characterized by bilateral choanal atresia (see this term) associated with a characteristic cranio-facial dysmorphism (hypertelorism with narrow palpebral fissures, coloboma of inferior eyelid (see this term) with presence of eyelashes medial to the defect, prominent nasal bridge, thin lips, prominent ears), that can be accompanied by hearing loss, unilateral cleft lip, preauricular tags, cardiac septal defects and anomalies of the kidneys. The features of this syndrome overlaps considerably with those of the CHARGE syndrome (see this term).

CHOANAL ATRESIA-HEARING LOSS-CARDIAC DEFECTS-CRANIOFACIAL DYSMORPHISM SYNDROME Is also known as oculootofacial dysplasia|burn-mckeown syndrome|oofd

Related symptoms:

  • Short stature
  • Hearing impairment
  • Hypertelorism
  • Micrognathia
  • Sensorineural hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about CHOANAL ATRESIA-HEARING LOSS-CARDIAC DEFECTS-CRANIOFACIAL DYSMORPHISM SYNDROME

Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome is characterised by the association of Alport syndrome, midface hypoplasia, intellectual deficit and elliptocytosis. It has been described in two families. The syndrome is transmitted as an X-linked trait is caused by a contiguous gene deletion in Xq22.3 involving several genes including COL4A5, FACL4 and AMMECR1.

ALPORT SYNDROME-INTELLECTUAL DISABILITY-MIDFACE HYPOPLASIA-ELLIPTOCYTOSIS SYNDROME Is also known as ats-mr|chromosome xq22.3 telomeric deletion syndrome|amme syndrome|alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis|amme complex

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Strabismus
  • Sensorineural hearing impairment
  • Abnormal facial shape


SOURCES: ORPHANET OMIM MENDELIAN

More info about ALPORT SYNDROME-INTELLECTUAL DISABILITY-MIDFACE HYPOPLASIA-ELLIPTOCYTOSIS SYNDROME

The overlapping phenotypes of neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD) represent the milder manifestations of the Zellweger syndrome spectrum (ZSS) of peroxisome biogenesis disorders. The clinical course of patients with the NALD and IRD presentation is variable and may include developmental delay, hypotonia, liver dysfunction, sensorineural hearing loss, retinal dystrophy, and visual impairment. Children with the NALD presentation may reach their teens, and those with the IRD presentation may reach adulthood (summary by Waterham and Ebberink, 2012).For a complete phenotypic description and a discussion of genetic heterogeneity of PBD(NALD/IRD), see {601539}.Individuals with mutations in the PEX12 gene have cells of complementation group 3 (CG3). For information on the history of PBD complementation groups, see {214100}.

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about PEROXISOME BIOGENESIS DISORDER 3B; PBD3B

Abruzzo-Erickson syndrome is a multiple congenital anomalies syndrome characterized by a cleft palate, ocular coloboma, hypospadias, mixed conductive-sensorineural hearing loss, short stature, and radio-ulnar synostosis.

ABRUZZO-ERICKSON SYNDROME Is also known as cleft palate-coloboma-deafness syndrome|charge-like syndrome|charge-like syndrome, x-linked

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Sensorineural hearing impairment
  • Cleft palate


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about ABRUZZO-ERICKSON SYNDROME

Top 5 symptoms//phenotypes associated to Sensorineural hearing impairment and Malar flattening

Symptoms // Phenotype % cases
Hearing impairment Very Common - Between 80% and 100% cases
Micrognathia Common - Between 50% and 80% cases
Cleft palate Common - Between 50% and 80% cases
Short stature Uncommon - Between 30% and 50% cases
Midface retrusion Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Depressed nasal bridge Flat face Myopia Intellectual disability Narrow mouth Protruding ear Anteverted nares Downslanted palpebral fissures Abnormal facial shape Bifid uvula Mixed hearing impairment Pectus carinatum Cataract Wide nasal bridge Hypertelorism Platyspondyly Retinal detachment

Rare Symptoms - Less than 30% cases

Global developmental delay Epiphyseal dysplasia Osteoarthritis Vitreoretinopathy Arthropathy Glossoptosis Exostoses Pierre-Robin sequence Facial asymmetry Strabismus Epicanthus Hernia Osteoporosis Muscular hypotonia Abnormality of the eye Arthralgia Blepharophimosis Hypoplasia of the maxilla Pectus excavatum Choanal atresia Atrial septal defect Depressed nasal ridge Conductive hearing impairment Ulnar deviation of finger Abnormal palate morphology Short nose Coloboma Thin vermilion border Underdeveloped nasal alae Renal insufficiency Stage 5 chronic kidney disease Prominent nose Thick vermilion border Proteinuria Hematuria Patent ductus arteriosus Tapered finger Renal hypoplasia Bilateral choanal atresia/stenosis Intellectual disability, severe Unilateral cleft lip Hypomimic face Eyelid coloboma External ear malformation Secundum atrial septal defect 2-3 toe syndactyly Abnormality of vision Narrow palpebral fissure Macrocephaly Preauricular skin tag Renal dysplasia Median cleft palate Bilateral choanal atresia Lower eyelid coloboma Short palpebral fissure Abnormality of the metaphysis Dysarthria Abnormality of the hair Hypospadias Abnormal electroretinogram Steatorrhea Hypocholesterolemia Esodeviation Very long chain fatty acid accumulation Cryptorchidism Brachydactyly Abnormality of the dentition Macrotia Abnormal bleeding Toe syndactyly Iris coloboma Microcornea Short toe Radioulnar synostosis Chorioretinal coloboma Abnormal localization of kidney Dimple chin Decreased liver function Polyneuropathy Nephritis Ataxia Glomerulopathy Increased number of teeth Microscopic hematuria Abnormal aortic valve morphology Elliptocytosis Craniopharyngioma Erythrocyte cylindruria Generalized hypotonia Nystagmus Single transverse palmar crease Failure to thrive Visual impairment Hepatomegaly Anal atresia Areflexia Hyporeflexia Rod-cone dystrophy Dry skin Retinal dystrophy Cleft upper lip Granulocytopenia Prominent nasal bridge Abnormality of epiphysis morphology Cleft soft palate Premature osteoarthritis Enlarged epiphyses Genu valgum Joint hyperflexibility Astigmatism Amblyopia Irregular vertebral endplates High myopia Scoliosis High palate Motor delay Abnormality of cardiovascular system morphology Prominent forehead Osteopenia Delayed eruption of teeth Abnormal joint morphology Limited wrist movement Increased bone mineral density Bilateral sensorineural hearing impairment Ptosis Flexion contracture Clinodactyly Telecanthus Camptodactyly of finger Wide nose High, narrow palate Interphalangeal joint contracture of finger Aplasia/Hypoplasia involving the nose Narrow face Congenital sensorineural hearing impairment Abnormality of the wrist Ulnar deviation of the hand Lacrimal duct atresia Ulnar deviation of the hand or of fingers of the hand Ulnar deviation of the wrist Recurrent fractures Wormian bones Short philtrum Abnormal vitreous humor morphology Glaucoma Retinopathy Arachnodactyly Joint hypermobility Mitral valve prolapse Spondyloepiphyseal dysplasia Long fingers Abnormal metacarpal morphology Mandibulofacial dysostosis Ventricular septal defect Abnormality of metabolism/homeostasis Inguinal hernia Mandibular prognathia Cleft lip Feeding difficulties in infancy Abnormal cardiac septum morphology Long philtrum Broad neck Progressive hearing impairment Respiratory distress Prominent supraorbital ridges Increased susceptibility to fractures Generalized osteoporosis Dentinogenesis imperfecta Thoracic platyspondyly Anemia Feeding difficulties Posteriorly rotated ears Severe sensorineural hearing impairment Microtia Webbed neck Congenital diaphragmatic hernia Sparse and thin eyebrow Sparse eyebrow Macrocytic anemia Submucous cleft hard palate Coronal hypospadias


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