Low-set ears, and Proteinuria

Diseases related with Low-set ears and Proteinuria

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

Top matches:

CRANIOFACIAL DYSPLASIA-SHORT STATURE-ECTODERMAL ANOMALIES-INTELLECTUAL DISABILITY SYNDROME Is also known as developmental delay-short stature-dysmorphic features-sparse hair syndrome|loucks-innes syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hypertelorism
  • Micrognathia


SOURCES: OMIM ORPHANET MENDELIAN

More info about CRANIOFACIAL DYSPLASIA-SHORT STATURE-ECTODERMAL ANOMALIES-INTELLECTUAL DISABILITY SYNDROME

Bilateral renal agenesis is the most profound form of renal agenesis (see this term), characterized by complete absence of kidney development, absent ureters and subsequent absence of fetal renal function resulting in Potter sequence with pulmonary hypoplasia related to oligohydramnios, which is fatal shortly after birth.

RENAL AGENESIS, BILATERAL Is also known as renal aplasia|renal adysplasia|hereditary renal aplasia|renal agenesis|hra

Related symptoms:

  • Hypertelorism
  • Abnormal facial shape
  • Cleft palate
  • Cryptorchidism
  • Low-set ears


SOURCES: OMIM ORPHANET MENDELIAN

More info about RENAL AGENESIS, BILATERAL

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

Other less relevant matches:

Arthrogryposis-Renal dysfunction-Cholestasis (ARC) syndrome is a multisystem disorder, characterized by neurogenic arthrogryposis multiplex congenita, renal tubular dysfunction and neonatal cholestasis with low serum gamma-glutamyl transferase activity.

ARTHROGRYPOSIS-RENAL DYSFUNCTION-CHOLESTASIS SYNDROME Is also known as arc syndrome|arcs

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly
  • Failure to thrive


SOURCES: OMIM ORPHANET MENDELIAN

More info about ARTHROGRYPOSIS-RENAL DYSFUNCTION-CHOLESTASIS SYNDROME

Donnai-Barrow syndrome (DBS) is a rare, often severe, multiple congenital malformation syndrome with typical facial dysmorphism, ocular findings, hearing loss, agenesis of the corpus callosum, and variable intellectual disability. Congenital diaphragmatic hernia (CDH) and/or omphalocele are common.

DONNAI-BARROW SYNDROME Is also known as syndrome of ocular and facial anomalies, telecanthus and deafness|diaphragmatic hernia, exomphalos, absent corpus callosum, hypertelorism, myopia, sensorineural deafness, and proteinuria|foar syndrome|facio-oculo-acoustico-renal syndrome|diaphragmatic her

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Scoliosis


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about DONNAI-BARROW SYNDROME

Cranioectodermal dysplasia (CED), also known as Sensenbrenner syndrome, is a rare autosomal recessive heterogeneous ciliopathy that is primarily characterized by skeletal abnormalities, including craniosynostosis, narrow rib cage, short limbs, and brachydactyly, and ectodermal defects. Nephronophthisis leading to progressive renal failure, hepatic fibrosis, heart defects, and retinitis pigmentosa have also been described (summary by Arts et al., 2011).For a discussion of genetic heterogeneity of cranioectodermal dysplasia, see CED1 (OMIM ).

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hypertelorism
  • Micrognathia
  • Cleft palate


SOURCES: OMIM MENDELIAN

More info about CRANIOECTODERMAL DYSPLASIA 2; CED2

Ohdo blepharophimosis syndrome (OBS) is a multiple congenital malformation syndrome characterized by blepharophimosis, ptosis, dental hypoplasia, hearing impairment and intellectual disability.

BLEPHAROPHIMOSIS-INTELLECTUAL DISABILITY SYNDROME, OHDO TYPE Is also known as young-simpson syndrome|ohdo syndrome|ohdo-madokoro-sonoda syndrome|say-barber-biesecker-young-simpson syndrome|bmrs, ohdo type|yss|blepharophimosis syndrome, ohdo type

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about BLEPHAROPHIMOSIS-INTELLECTUAL DISABILITY SYNDROME, OHDO TYPE

Galloway-Mowat syndrome is a renal-neurologic disease characterized by early-onset nephrotic syndrome associated with microcephaly, gyral abnormalities of the brain, and delayed psychomotor development. Most patients have dysmorphic facial features, often including hypertelorism, ear abnormalities, and micrognathia. Other features, such as arachnodactyly and visual impairment, are more variable. Most patients die in the first years of life (summary by Braun et al., 2017).For a general phenotypic description and a discussion of genetic heterogeneity of GAMOS, see GAMOS1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about GALLOWAY-MOWAT SYNDROME 3; GAMOS3

Orofaciodigital syndrome type I (OFD1) is characterized by malformations of the face, oral cavity, and digits and is transmitted as an X-linked dominant condition with lethality in males. Thickened alveolar ridges and abnormal dentition, including absent lateral incisors, are additional characteristics of OFD1. The central nervous system may also be involved in as many as 40% of cases. Although these clinical features overlap those reported in other forms of orofaciodigital syndrome, OFD1 can be easily distinguished from among these by its X-linked dominant inheritance pattern and by polycystic kidney disease, which seems to be specific to type I (summary by Ferrante et al., 2001).Since the CXORF5 gene localizes to the centrosome and basal body of primary cilia, OFD1 is considered to be a ciliopathy (Chetty-John et al., 2010).

OROFACIODIGITAL SYNDROME I; OFD1 Is also known as oral-facial-digital syndrome, type i|papillon-leage and psaume syndrome|ofds i

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about OROFACIODIGITAL SYNDROME I; OFD1

Medium match OHDO SYNDROME

OHDO SYNDROME Is also known as ohdo blepharophimosis syndrome|mental retardation, congenital heart disease, blepharophimosis, blepharoptosis, and hypoplastic teeth

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about OHDO SYNDROME

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

Symptoms // Phenotype % cases
Micrognathia Common - Between 50% and 80% cases
Epicanthus Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Hearing impairment Common - Between 50% and 80% cases
Hypertelorism Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Global developmental delay

Uncommon Symptoms - Between 30% and 50% cases

Abnormality of the dentition

Common Symptoms - More than 50% cases

Microcephaly

Uncommon Symptoms - Between 30% and 50% cases

Short stature Cleft palate Depressed nasal bridge Cryptorchidism Stage 5 chronic kidney disease Generalized hypotonia Downslanted palpebral fissures High palate Abnormal facial shape Ventricular septal defect Seizures Telecanthus Wide nasal bridge Blepharophimosis Hypothyroidism Hernia Renal insufficiency Sensorineural hearing impairment Failure to thrive Atrial septal defect Sloping forehead Midface retrusion Posteriorly rotated ears Narrow mouth Abnormal heart morphology Joint laxity Widely spaced teeth Frontal bossing Anteverted nares Talipes Talipes equinovarus Sparse hair Abnormality of the kidney Retrognathia Hypertension

Rare Symptoms - Less than 30% cases

Coloboma Muscular hypotonia Scrotal hypoplasia Syndactyly Pectus excavatum Agenesis of corpus callosum Patent ductus arteriosus Craniosynostosis Polydactyly Polyhydramnios Everted lower lip vermilion Bulbous nose Sparse eyebrow Hypoplasia of the corpus callosum Prominent occiput Bifid uvula Ectodermal dysplasia Short nose Long nose Lissencephaly Aminoaciduria Hyperbilirubinemia Cholestasis Brachydactyly Sparse eyelashes Atrioventricular canal defect Ichthyosis Hip dislocation Elevated hepatic transaminase Hypoplasia of teeth Acidosis Smooth philtrum Clinodactyly Umbilical hernia Microtia Renal hypoplasia Renal dysplasia Nephronophthisis Polycystic kidney dysplasia Growth delay Ptosis Delayed speech and language development Bicornuate uterus Prominent forehead Intrauterine growth retardation Hepatic fibrosis Microphthalmia Narrow forehead Feeding difficulties Pulmonary hypoplasia Cataract Abnormality of cardiovascular system morphology Malar flattening Intellectual disability, severe Myopia Microdontia Oligohydramnios Glomerulosclerosis Camptodactyly Metopic synostosis Horizontal ribs Cerebellar atrophy Cerebral atrophy Cerebellar hypoplasia Portal fibrosis Deeply set eye Arachnodactyly Hypoalbuminemia Convex nasal ridge Nephrotic syndrome Delayed myelination Focal segmental glomerulosclerosis Coarctation of aorta Pachygyria Postnatal microcephaly Leukodystrophy Hypocalcemia Fused teeth Visual impairment Edema Patellar hypoplasia Thin upper lip vermilion Heart murmur Cognitive impairment Abnormality of the outer ear Torticollis Intellectual disability, mild Cardiomyopathy Macular degeneration Motor delay Congenital hypothyroidism Amblyopia Recurrent otitis media Epicanthus inversus Abnormal palmar dermatoglyphics Dilated cardiomyopathy Neonatal asphyxia Multiple bladder diverticula Nystagmus Strabismus Spasticity Postnatal growth retardation Ventriculomegaly Renal agenesis Carious teeth Hypoplastic left heart Optic atrophy Abnormality of the foot Feeding difficulties in infancy Severe short stature Recurrent respiratory infections Clinodactyly of the 5th finger Long philtrum Fever Thin vermilion border Trident hand Abnormality of toe Multiple glomerular cysts Alveolar ridge overgrowth Gray matter heterotopias Hypothalamic hamartoma Tongue nodules Joint hyperflexibility Triangular face Narrow naris Stenosis of the external auditory canal Neoplasm of the tongue Thyroid agenesis Ectopic thyroid Thyroid hypoplasia Abnormal nasolacrimal system morphology Bladder diverticulum Abnormality of the antihelix Submucous cleft hard palate Prominent nose Adducted thumb Bilateral single transverse palmar creases Sparse and thin eyebrow Short palpebral fissure Interphalangeal joint contracture of finger Hypsarrhythmia Specific learning disability Lobulated tongue Deviation of finger Cortical gyral simplification Depressivity Postaxial polydactyly Oral cleft Facial asymmetry Cloverleaf skull Abnormality of the cerebral white matter Cleft lip Alopecia Dilatation Underdeveloped nasal alae Hydrocephalus Tremor Dysarthria Hypertensive crisis Diffuse mesangial sclerosis Hand clenching Corpus callosum atrophy Abnormal cerebellum morphology Hypoplasia of dental enamel Pancreatic cysts Myelomeningocele Hepatic cysts Porencephalic cyst Dry hair Ovarian cyst Abnormality of the pancreas Bifid tongue Abnormal cortical gyration Arachnoid cyst Microretrognathia Median cleft lip Increased number of teeth Agenesis of permanent teeth Milia Molar tooth sign on MRI Radial deviation of finger Cutaneous syndactyly Bile duct proliferation Full cheeks Broad philtrum Arthrogryposis multiplex congenita Bifid scrotum Congenital sensorineural hearing impairment Telangiectasia of the skin Hypoplastic nipples Aplasia/Hypoplasia of the nipples Chordee Hypoplastic toenails Nephritis Trigonocephaly Hyperkeratosis Osteopenia Jaundice Abnormality of the liver Pruritus Nephropathy Telangiectasia Nephrocalcinosis Barrel-shaped chest Right ventricular hypertrophy Renal tubular dysfunction Severe failure to thrive Renal tubular acidosis Diabetes insipidus Congenital hip dislocation Metabolic acidosis Ventricular hypertrophy Epistaxis Dehydration Hip dysplasia Abnormal bleeding Single transverse palmar crease Abnormal dermatoglyphics Thick lower lip vermilion Cholestatic liver disease Nonketotic hypoglycemia Primary amenorrhea Depressed nasal ridge Multicystic kidney dysplasia Abnormal intestine morphology Abnormality of the genitourinary system Unilateral renal agenesis Tracheoesophageal fistula Non-midline cleft lip Breech presentation Vaginal atresia Abnormality of female internal genitalia Bilateral renal agenesis Abnormal sacrum morphology Bilateral renal hypoplasia Urogenital fistula Pancytopenia Intellectual disability, moderate Hypoplasia of penis Wide intermamillary distance Dental malocclusion Scaphocephaly Tubulointerstitial nephritis Wide mouth Posterior fossa cyst Potter facies Micropenis Falls Fetal polyuria Bilateral renal dysplasia Sirenomelia Urethral obstruction Conjugated hyperbilirubinemia Lichenification Cholangitis Postaxial hand polydactyly Non-acidotic proximal tubulopathy Hepatomegaly Abnormality of the skeletal system Short neck Splenomegaly Inguinal hernia Rod-cone dystrophy Upslanted palpebral fissure High forehead Abnormality of the pinna Dolichocephaly Narrow chest Renal cyst Limb undergrowth Left ventricular hypertrophy Infra-orbital crease Preaxial polydactyly Biliary cirrhosis High anterior hairline Polysplenia Cutaneous finger syndactyly Cystic hygroma Mesomelia Patent foramen ovale Rhizomelia Chronic kidney disease Cutis laxa Plagiocephaly Narrow palpebral fissure Short ribs Hydrops fetalis Low-molecular-weight proteinuria Macular hypoplasia Generalized aminoaciduria Hematuria Broad nasal tip Retinal detachment Retinal dystrophy Iris coloboma Broad forehead Proptosis Dandy-Walker malformation Progressive visual loss Macrocephaly Scoliosis Cerebellar vermis hypoplasia Talipes calcaneovalgus Giant cell hepatitis Nephrogenic diabetes insipidus Intestinal malrotation Congenital diaphragmatic hernia Diaphragmatic eventration Partial agenesis of the corpus callosum Proximal tubulopathy Short sternum Abnormality of the uterus Widow's peak Hypoplasia of the iris Severe sensorineural hearing impairment Epiphyseal dysplasia High myopia Prominent supraorbital ridges Aplasia/Hypoplasia of the corpus callosum Abnormal vertebral morphology Wide anterior fontanel Heterotopia Omphalocele Abnormality of the cheek


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Hydrocephalus and Myopia, related diseases and genetic alterations Myopathy and Primary amenorrhea, related diseases and genetic alterations Epicanthus and Prominent forehead, related diseases and genetic alterations