Sensorineural hearing impairment, and Renal hypoplasia

Diseases related with Sensorineural hearing impairment and Renal hypoplasia

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


Top matches:

Medium match VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 1; VCRL1


VCRL1 is an autosomal recessive congenital malformation syndrome characterized by vertebral segmentation abnormalities, congenital cardiac defects, renal defects, and distal mild limb defects. Additional features are variable (summary by Shi et al., 2017). Genetic Heterogeneity of vertebral, cardiac, renal, and limb defects syndromeSee also VCRL2 (OMIM ), caused by mutation in the KYNU gene (OMIM ) on chromosome 2q22.

VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 1; VCRL1 Is also known as 3-hydroxyanthranilic acidemia|congenital nad deficiency disorder 1

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 1; VCRL1

Medium match CHOANAL ATRESIA-HEARING LOSS-CARDIAC DEFECTS-CRANIOFACIAL DYSMORPHISM SYNDROME


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

Medium match DEAFNESS-INTELLECTUAL DISABILITY SYNDROME, MARTIN-PROBST TYPE


Deafness-intellectual disability syndrome, Martin-Probst type is characterised by severe bilateral deafness, intellectual deficit, umbilical hernia and abnormal dermatoglyphics. It has been described in three males from three generations of one family. Mild facial dysmorphism (telangiectasias, hypertelorism, dental anomalies and a wide nasal root) was also present. Short stature, pancytopaenia, microcephaly, and renal and genitourinary anomalies were present in some of the patients. The mode of transmission is X-linked recessive and the causative gene has been localised to the q1-21 region of the X chromosome.

DEAFNESS-INTELLECTUAL DISABILITY SYNDROME, MARTIN-PROBST TYPE Is also known as martin-probst deafness-mental retardation syndrome|x-linked deafness-intellectual disability syndrome syndrome|martin-probst syndrome

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Hypertelorism


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about DEAFNESS-INTELLECTUAL DISABILITY SYNDROME, MARTIN-PROBST TYPE

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Other less relevant matches:

Medium match RENAL COLOBOMA SYNDROME


Renal coloboma syndrome (RCS) is a genetic condition characterized by optic nerve dysplasia and renal hypodysplasia.

RENAL COLOBOMA SYNDROME Is also known as renal-coloboma syndrome|congenital anomalies of the kidney and urinary tract with or without ocular abnormalities|optic coloboma, vesicoureteral reflux, and renal anomalies|papillo-renal syndrome|coloboma of optic nerve with renal disease|renal-coloboma s

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Hearing impairment
  • Nystagmus


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about RENAL COLOBOMA SYNDROME

Medium match MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 2; MSSGM2


Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Hearing impairment
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 2; MSSGM2

Medium match BOR SYNDROME


Branchiootorenal (BOR) syndrome is characterized by branchial arch anomalies (branchial clefts, fistulae, cysts), hearing impairment (malformations of the auricle with pre-auricular pits, conductive or sensorineural hearing impairment), and renal malformations (urinary tree malformation, renal hypoplasia or agenesis, renal dysplasia, renal cysts).

BOR SYNDROME Is also known as melnick-fraser syndrome|branchiootorenal syndrome|branchiootorenal dysplasia

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about BOR SYNDROME

Medium match MATTHEW-WOOD SYNDROME


Matthew-Wood syndrome is a rare clinical entity including as main characteristics anophthalmia or severe microphthalmia, and pulmonary hypoplasia or aplasia.

MATTHEW-WOOD SYNDROME Is also known as anophthalmia, clinical, with mild facial dysmorphism and variable malformations of the lung, heart, and diaphragm|syndromic microphthalmia type 9|mcops9|pulmonary agenesis, microphthalmia, and diaphragmatic defect|anophthalmia-pulmonary hypoplasia syndrom

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about MATTHEW-WOOD SYNDROME

Medium match 17Q12 MICRODELETION SYNDROME


17q12 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from the partial deletion of the long arm of chromosome 17 characterized by renal cystic disease, maturity onset diabetes of the young type 5, and neurodevelopmental disorders, such as cognitive impairment, developmental delay (particularly of speech), autistic traits and autism spectrum disorder. Müllerian aplasia in females, macrocephaly, mild facial dysmorphism (high forehead, deep set eyes and chubby cheeks) and transient hypercalcaemia have also been reported.

17Q12 MICRODELETION SYNDROME Is also known as del(17)(q12)|monosomy 17q12

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about 17Q12 MICRODELETION SYNDROME

Medium match CENANI-LENZ SYNDROME


Cenani-Lenz syndrome (CLS) is a congenital malformation syndrome that associates a complex syndactyly of the hands with malformations of the forearm bones and similar manifestations in the lower limbs.

CENANI-LENZ SYNDROME Is also known as cenani-lenz syndactyly|cenani syndactyly|syndactyly type 7|syndactyly, type vii|cenani syndactylism

Related symptoms:

  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Nystagmus
  • Micrognathia


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about CENANI-LENZ SYNDROME

Medium match DUANE-RADIAL RAY SYNDROME; DRRS


Duane-radial ray syndrome, also known as Okihiro syndrome, is an autosomal dominant disorder characterized by upper limb anomalies, ocular anomalies, and, in some cases, renal anomalies. The combination of the 3 findings was earlier referred to as 'acro-renal-ocular syndrome.' The ocular anomalies usually include Duane anomaly (see {126800}), but this finding may be absent in some patients (Kohlhase et al., 2003). Similarly, renal anomalies are not always seen and may not have been investigated, particularly in cases reported before routine renal imaging (Aalfs et al., 1996). Other less common features include sensorineural deafness and gastrointestinal anomalies, such as imperforate anus.The Holt-Oram syndrome (OMIM ), caused by mutation in the TBX5 gene (OMIM ) on chromosome 12q24, shows similar anomalies of the upper limb, but can be differentiated from Duane-radial ray syndrome by the absence of ocular and renal anomalies and the presence of severe congenital heart defects (Kohlhase, 2003).

DUANE-RADIAL RAY SYNDROME; DRRS Is also known as dr syndrome|acrorenoocular syndrome|duane anomaly with radial ray abnormalities and deafness|okihiro syndrome

Related symptoms:

  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Strabismus
  • Sensorineural hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about DUANE-RADIAL RAY SYNDROME; DRRS

Top 5 symptoms//phenotypes associated to Sensorineural hearing impairment and Renal hypoplasia

Symptoms // Phenotype % cases
Hearing impairment Very Common - Between 80% and 100% cases
Short stature Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Micrognathia Common - Between 50% and 80% cases
Hydronephrosis Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Atrial septal defect Renal insufficiency Bilateral sensorineural hearing impairment Renal malrotation Malar flattening Renal dysplasia Hypertelorism Epicanthus Abnormality of the kidney Vesicoureteral reflux Microphthalmia Cataract Cleft palate Cryptorchidism Protruding ear Abnormality of the genital system Abnormal facial shape Myopia Horseshoe kidney Seizures Stage 5 chronic kidney disease Abnormal dermatoglyphics Mixed hearing impairment Downslanted palpebral fissures Low-set ears Diabetes mellitus Coloboma Blepharophimosis Multicystic kidney dysplasia Retrognathia Hypothyroidism Intestinal malrotation Renal agenesis Microcephaly Scoliosis Bifid uvula Hernia Wide nasal bridge Ventricular septal defect Renal hypoplasia/aplasia

Rare Symptoms - Less than 30% cases


Ptosis Strabismus Nystagmus Proteinuria Syndactyly Short thumb Facial asymmetry Hypoplasia of the radius Hypoplasia of the ulna Absent thumb Crossed fused renal ectopia Hydrocephalus Facial palsy Frontal bossing Depressed nasal bridge Global developmental delay Ectopic kidney Abnormality of the genitourinary system Retinal coloboma Ureteropelvic junction obstruction Bilateral renal hypoplasia Congenital hip dislocation Growth delay Intrauterine growth retardation Hypoplasia of the corpus callosum Oligohydramnios High palate Abnormal heart morphology Pulmonary hypoplasia Conductive hearing impairment Mandibular prognathia External ear malformation Inguinal hernia Narrow mouth Anal atresia Prominent nasal bridge Choanal atresia Preauricular skin tag Short philtrum Intellectual disability, severe Short nose Elevated hepatic transaminase Behavioral abnormality High forehead Autism Cerebral atrophy Feeding difficulties Spinal dysraphism Absence of the sacrum Delayed speech and language development Hypermetropia Laryngotracheomalacia Agenesis of pulmonary vessels Abnormal spleen morphology Nail dystrophy Short foot Butterfly vertebrae Language impairment Long toe Aplasia of the uterus Maturity-onset diabetes of the young Ovarian cyst Upper limb undergrowth Shawl scrotum Long fingers Unilateral renal agenesis Focal impaired awareness seizure Short palm Schizophrenia Horizontal nystagmus Sparse and thin eyebrow Large fontanelles Recurrent urinary tract infections Hypertrichosis Small nail Highly arched eyebrow Hypoplastic left atrium Abnormality of the dentition Hypoplastic spleen Pectus carinatum Optic nerve hypoplasia Abnormal lung morphology Intellectual disability, profound Coarctation of aorta Congenital diaphragmatic hernia Tetralogy of Fallot Pulmonic stenosis Camptodactyly Rocker bottom foot Respiratory failure Brachycephaly Severe short stature Hypoplastic sacrum Patent ductus arteriosus Abnormality of cardiovascular system morphology Respiratory distress Anophthalmia Hypoplasia of the uterus Aplasia/Hypoplasia of the pancreas Overriding aorta Urethral stenosis Mild intrauterine growth retardation Right aortic arch with mirror image branching Bilateral lung agenesis Pulmonary artery hypoplasia Pelvic kidney Single ventricle Annular pancreas Hiatus hernia Abnormality of the diaphragm Duodenal stenosis Diaphragmatic eventration Bilateral microphthalmos Bicornuate uterus Abnormality of the uterus Pulmonary artery atresia Truncus arteriosus Hyperechogenic kidneys Ureterocele Subcortical cerebral atrophy Iris coloboma Triphalangeal thumb Preaxial polydactyly Abnormality of the urinary system Sandal gap Spina bifida occulta Aganglionic megacolon Microcornea Pes planus Short humerus Polydactyly Dilatation Talipes equinovarus Synostosis of joints Talipes Foot oligodactyly Absent fingernail Preaxial hand polydactyly Absent radius Synostosis of carpal bones Radial deviation of the hand Slit-like opening of the exterior auditory meatus Pectoralis hypoplasia Palpebral fissure narrowing on adduction Impaired convergence Impaired ocular abduction Impaired ocular adduction Unilateral deafness Aplasia of metacarpal bones Anal stenosis Hemifacial hypoplasia Optic disc hypoplasia Duane anomaly Small thenar eminence Abnormality of the nasopharynx Bladder diverticulum Fused cervical vertebrae Choanal stenosis Absent toenail Oligodactyly Hyperconvex nail Mitral stenosis Toe syndactyly Congenital cataract Hip dislocation Finger syndactyly Deeply set eye Proptosis Prominent forehead Tethered cord High, narrow palate Unicornuate uterus Pancreatic aplasia Pica Ureteral atresia Aplasia of the vagina Hypoplasia of the bladder Abnormality of upper lip Flexion contracture Micromelia Hypodontia Congenital hypothyroidism Deep philtrum Abnormality of digit Aortic valve stenosis Hypoplastic left heart Ectropion Elbow dislocation Radioulnar synostosis Systemic lupus erythematosus Tracheomalacia Convex nasal ridge Laryngomalacia Abnormality of the metacarpal bones Abnormality of dental enamel Narrow palate Hemivertebrae Lipoma Abnormal form of the vertebral bodies Abnormality of the ribs Respiratory insufficiency Dilatated internal auditory canal Muscular hypotonia Arnold-Chiari type I malformation Short palpebral fissure Optic nerve coloboma Hydrocele testis Elevated serum creatinine Multiple renal cysts Abnormality of the vasculature Soft skin Severe vision loss Underdeveloped nasal alae Chorioretinal atrophy Visual field defect Nephritis Hyperextensible skin Chronic kidney disease Macular degeneration Narrow palpebral fissure High-frequency hearing impairment Pyelonephritis Abnormal palate morphology Macular hyperpigmentation Tremor Cleft upper lip Dysarthria Spasticity Thin vermilion border Ureterovesical junction obstruction Recurrent pyelonephritis Orbital cyst Platybasia Morning glory anomaly Hypoplasia of the maxilla Scleral staphyloma Optic nerve dysplasia Mild proteinuria Prominent nose Lens luxation Nephrolithiasis Progressive visual loss Delayed skeletal maturation Wide intermamillary distance Congenital sensorineural hearing impairment Bifid scrotum Bilateral choanal atresia Telangiectasia Thick lower lip vermilion Pancytopenia Hypoplasia of penis Dental malocclusion Hypoplastic nipples Everted lower lip vermilion Lower eyelid coloboma Wide mouth Intellectual disability, moderate Telecanthus Bilateral choanal atresia/stenosis Umbilical hernia Telangiectasia of the skin Aplasia/Hypoplasia of the nipples Abnormality of vision Reduced visual acuity Gliosis Retinal detachment Nephropathy Confusion Joint hyperflexibility 2-3 toe syndactyly Joint laxity Glaucoma Chordee Eyelid coloboma Edema Hypomimic face Hypertension Visual impairment Secundum atrial septal defect Unilateral cleft lip Median cleft palate Pectus excavatum Gait ataxia Failure to thrive Laryngeal web Abnormality of the middle ear ossicles Bilateral renal agenesis Overbite Lacrimal duct stenosis Lacrimation abnormality Stenosis of the external auditory canal Premature graying of hair Preauricular pit Branchial cyst Epiphora Cupped ear Polycystic kidney dysplasia Atresia of the external auditory canal Abnormality of metabolism/homeostasis Narrow face Atrial fibrillation Body odor Arteria lusoria Cleft lip Abnormality of the cerebrum Generalized hypotonia Gustatory lacrimation Enlarged cochlear aqueduct Cholesteatoma Micropenis Incomplete partition of the cochlea type II Abnormal lacrimal duct morphology Abnormality of the renal collecting system Branchial fistula Lacrimal duct aplasia Euthyroid goiter Unilateral renal hypoplasia Bilateral renal dysplasia Renal steatosis Hypoplasia of the cochlea Cochlear malformation Microdontia Flat face Macrotia Delayed myelination Type I diabetes mellitus Truncal ataxia Abnormal vertebral morphology Fine hair Blue sclerae Hypotelorism Round face Full cheeks Polydipsia Downturned corners of mouth Dysmetria Delayed puberty Small for gestational age Sparse hair Hyperlordosis Kyphoscoliosis Oligodontia Hypoplasia of the brainstem Long face Increased vertebral height Microtia Paralysis Abnormality of the pinna Abnormality of the eye Feeding difficulties in infancy Dysphagia Abnormal cardiac septum morphology Kinetic tremor Hyperglycemia Recurrent hypoglycemia Prominent superficial veins Maternal diabetes Down-sloping shoulders Ketoacidosis High pitched voice Brisk reflexes Polyuria Upper limb muscle hypoplasia



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