Hypertelorism, and Renal dysplasia

Diseases related with Hypertelorism and Renal dysplasia

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

Top matches:

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

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:

GDACCF is an intellectual disability syndrome apparent soon after birth with neonatal hypotonia, poor feeding, and respiratory insufficiency followed by delayed psychomotor development and intellectual disability with poor speech. Brain imaging shows aplasia or hypoplasia of the corpus callosum. Affected individuals have variable dysmorphic facial features, and some may have dysplastic, cystic kidneys or mild cardiac defects (summary by Stevens et al., 2016).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about GLOBAL DEVELOPMENTAL DELAY, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM, AND DYSMORPHIC FACIES; GDACCF

Thauvin-Robinet-Faivre syndrome is an autosomal recessive disorder characterized by generalized overgrowth, mainly of height, and mildly delayed psychomotor development with mild or severe learning difficulties. More variable features may include congenital heart defects, kidney abnormalities, and skeletal defects. Patients may have an increased risk for Wilms tumor (summary by Akawi et al., 2016).

TALL STATURE-INTELLECTUAL DISABILITY-RENAL ANOMALIES SYNDROME Is also known as thauvin-robinet-faivre syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about TALL STATURE-INTELLECTUAL DISABILITY-RENAL ANOMALIES SYNDROME

Related symptoms:

  • Hypertelorism
  • Cleft palate
  • Cryptorchidism
  • Respiratory insufficiency
  • Microphthalmia


SOURCES: OMIM MENDELIAN

More info about SHORT-RIB THORACIC DYSPLASIA 13 WITH OR WITHOUT POLYDACTYLY; SRTD13

CAKUTHED is an autosomal dominant highly pleiotropic developmental disorder characterized mainly by variable congenital anomalies of the kidney and urinary tract, sometimes resulting in renal dysfunction or failure, dysmorphic facial features, and abnormalities of the outer ear, often with hearing loss. Most patients have global developmental delay (summary by Heidet et al., 2017 and Slavotinek et al., 2017).

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM MENDELIAN

More info about CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT SYNDROME WITH OR WITHOUT HEARING LOSS, ABNORMAL EARS, OR DEVELOPMENTAL DELAY; CAKUTHED

ALAGILLE SYNDROME DUE TO A NOTCH2 POINT MUTATION Is also known as syndromic bile duct paucity due to a notch2 point mutation|arteriohepatic dysplasia due to a notch2 point mutation|alagille-watson syndrome due to a notch2 point mutation

Related symptoms:

  • Hypertelorism
  • Failure to thrive
  • Cognitive impairment
  • Hypertension
  • Hepatomegaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about ALAGILLE SYNDROME DUE TO A NOTCH2 POINT MUTATION

RENAL-HEPATIC-PANCREATIC DYSPLASIA 1; RHPD1 Is also known as rhpd

Related symptoms:

  • Growth delay
  • Hypertelorism
  • Flexion contracture
  • Hepatomegaly
  • Intrauterine growth retardation


SOURCES: OMIM MENDELIAN

More info about RENAL-HEPATIC-PANCREATIC DYSPLASIA 1; RHPD1

Diaphanospondylodysostosis is characterized by absent ossification of the vertebral bodies and sacrum associated with variable anomalies. It has been described in less than ten patients from different families. Manifestations include a short neck, a short wide thorax, a reduced number of ribs, a narrow pelvis, and inconstant anomalies such as myelomeningocele, cystic kidneys with nephrogenic rests, and cleft palate.

DIAPHANOSPONDYLODYSOSTOSIS Is also known as vertebral ossification, defect in, with nephrogenic rests

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Hypertelorism
  • Micrognathia
  • Muscular hypotonia


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about DIAPHANOSPONDYLODYSOSTOSIS

Top 5 symptoms//phenotypes associated to Hypertelorism and Renal dysplasia

Symptoms // Phenotype % cases
Renal cyst Common - Between 50% and 80% cases
Renal hypoplasia Common - Between 50% and 80% cases
Epicanthus Common - Between 50% and 80% cases
Respiratory insufficiency Uncommon - Between 30% and 50% cases
Abnormal facial shape Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Hypertelorism and Renal dysplasia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Short stature Oligohydramnios Cryptorchidism Low-set ears Talipes equinovarus Global developmental delay Patent ductus arteriosus Pulmonary hypoplasia Hearing impairment Abnormal heart morphology Cleft palate Renal insufficiency Wide nasal bridge Intellectual disability Hernia Ventricular septal defect Atrial septal defect Generalized hypotonia Microcephaly Proteinuria Growth delay Abnormality of the kidney Talipes Stage 5 chronic kidney disease Abnormal cardiac septum morphology Inguinal hernia Micrognathia Enlarged kidney Sensorineural hearing impairment

Rare Symptoms - Less than 30% cases

Downslanted palpebral fissures Feeding difficulties Anteverted nares Micropenis Telecanthus Cholestasis Intrauterine growth retardation Wide mouth Short neck Triangular face Hypoplasia of the corpus callosum Abnormality of the skeletal system Bell-shaped thorax Spontaneous abortion Ambiguous genitalia Dandy-Walker malformation Postaxial polydactyly Polydactyly Bifid ureter Spina bifida occulta Spina bifida Intestinal malrotation Macrotia Midface retrusion Strabismus Hepatic failure Hepatomegaly Acidosis Jaundice Deep philtrum Pointed chin Coarctation of aorta Mitral valve prolapse Potter facies Poor speech Cirrhosis Pes planus Coarse facial features Polymicrogyria Thoracic hypoplasia Short palpebral fissure Polycystic kidney dysplasia Retrognathia Blepharophimosis Hypertension Coloboma Renal agenesis Cleft lip Anal atresia Depressed nasal ridge Mandibular prognathia Protruding ear Prominent nose Short nose Malar flattening Failure to thrive Abnormality of the liver Abnormality of the urinary system Scarring Chronic kidney disease Ectopic kidney Poor eye contact Thickened helices Nephrogenic rest Unossified vertebral bodies Decreased numbers of nephrons Narrow pelvis bone Hyperechogenic kidneys Abnormal vertebral segmentation and fusion Splenomegaly Anteverted ears Horseshoe kidney Uterus didelphys Hypoplastic helices Absent or minimally ossified vertebral bodies Cognitive impairment Urethral valve Nephroblastomatosis Hepatic cysts Narrow face Unicoronal synostosis Occipital encephalocele Flat acetabular roof Thoracic dysplasia Hypoplastic pelvis Bifid tongue Cleft soft palate Horizontal ribs Lobulated tongue Absent in utero ossification of vertebral bodies Squared iliac bones Unossified sacrum Hypoplastic facial bones Scoliosis Abnormal liver lobulation Absent in utero rib ossification Delayed speech and language development Motor delay Dilatation Autism Thin upper lip vermilion Abnormality of the nervous system Autistic behavior Lumbosacral meningocele Microtia Long face Retinopathy Recurrent urinary tract infections Vesicoureteral reflux Stroke Increased nuchal translucency Multiple glomerular cysts Poor coordination Pulmonary artery stenosis Wolff-Parkinson-White syndrome Cholestatic liver disease Natal tooth Depressed nasal bridge Butterfly vertebrae Muscular hypotonia Dark urine Axenfeld anomaly Pancreatic dysplasia Flexion contracture Ureteral atresia Diabetes mellitus Posterior embryotoxon Glutaric acidemia Pancreatic fibrosis Hepatic fibrosis Aortic valve stenosis Situs inversus totalis Portal fibrosis Type I diabetes mellitus Preauricular pit Polysplenia Asplenia Biliary cirrhosis Bile duct proliferation Short sternum Exocrine pancreatic insufficiency Renal tubular acidosis Enlarged thorax Protuberant abdomen Pancreatic cysts Cystic renal dysplasia Disproportionate short-trunk short stature Broad forehead Hypoplastic fingernail Pruritus Pulmonic stenosis Malabsorption Missing ribs Myelomeningocele Multiple renal cysts Tracheomalacia Hematuria Vertebral segmentation defect Long nose Short thorax Hammertoe Large fontanelles Cyanosis Pigmentary retinopathy Small nail Abnormality of the ribs Webbed neck Respiratory distress Tetralogy of Fallot Increased body weight Rickets Heart murmur Peripheral pulmonary artery stenosis Neutropenia Molar tooth sign on MRI Urethral obstruction Abnormality of the genitourinary system Unilateral renal agenesis Tracheoesophageal fistula Non-midline cleft lip Breech presentation Bicornuate uterus Vaginal atresia Abnormality of female internal genitalia Bilateral renal agenesis Abnormal sacrum morphology Bilateral renal hypoplasia Nonketotic hypoglycemia Urogenital fistula Sirenomelia Multicystic kidney dysplasia Bilateral renal dysplasia Fetal polyuria Cataract Myopia Intellectual disability, severe Abnormality of the dentition Hypothyroidism Umbilical hernia Intellectual disability, moderate Everted lower lip vermilion Dental malocclusion Wide intermamillary distance Hypoplasia of penis Abnormal intestine morphology Primary amenorrhea Thick lower lip vermilion Preauricular skin tag Abnormality of metabolism/homeostasis Narrow mouth Conductive hearing impairment Abnormality of the eye Feeding difficulties in infancy Short philtrum Prominent nasal bridge Cleft upper lip Thin vermilion border Hypoplasia of the maxilla Bifid uvula Underdeveloped nasal alae Choanal atresia Narrow palpebral fissure Falls Abnormal palate morphology Abnormality of vision 2-3 toe syndactyly Mixed hearing impairment External ear malformation Eyelid coloboma Hypomimic face Secundum atrial septal defect Unilateral cleft lip Median cleft palate Bilateral choanal atresia Lower eyelid coloboma Bilateral choanal atresia/stenosis Abnormality of cardiovascular system morphology Pancytopenia Telangiectasia Preaxial polydactyly Renal malrotation Thick vermilion border Macroglossia Round face Overgrowth Tall stature Nephroblastoma Large hands Bowing of the legs Large for gestational age Long foot Varicose veins Retinal coloboma Long hallux Microphthalmia Deeply set eye Cerebellar hypoplasia Respiratory failure Skeletal dysplasia Narrow chest Limb undergrowth Cerebellar vermis hypoplasia Encephalocele Omphalocele Bowing of the long bones Rhizomelia Short ribs Microretrognathia Relative macrocephaly Astigmatism Intellectual disability, mild Abnormal dermatoglyphics Hypermetropia Bifid scrotum Congenital sensorineural hearing impairment Telangiectasia of the skin Hypoplastic nipples Aplasia/Hypoplasia of the nipples Chordee Frontal bossing Ventriculomegaly Agenesis of corpus callosum Upslanted palpebral fissure Neonatal hypotonia Hydronephrosis Abnormality of the pinna Smooth philtrum Macrocephaly Growth hormone deficiency Narrow palate Flat occiput Hypoplastic left heart Delayed ability to walk Inverted nipples Low hanging columella Mitral stenosis Gastrointestinal dysmotility Broad columella Oval face Narrow philtrum Infra-orbital crease Neoplasm Intralobar nephroblastomatosis


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