Hypertelorism, and Renal hypoplasia

Diseases related with Hypertelorism and Renal hypoplasia

In the following list you will find some of the most common rare diseases related to Hypertelorism and Renal hypoplasia 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:

Stromme syndrome is an autosomal recessive congenital disorder affecting multiple systems with features of a ciliopathy. Affected individuals typically have some type of intestinal atresia, variable ocular abnormalities, microcephaly, and sometimes involvement of other systems, including renal and cardiac. In some cases, the condition is lethal in early life, whereas other patients show normal survival with or without mild cognitive impairment (summary by Filges et al., 2016).

STROMME SYNDROME; STROMS Is also known as jejunal atresia with microcephaly and ocular anomalies|apple peel syndrome with microcephaly and ocular anomalies|ciliary dyskinesia, primary, 31, formerly|cild31, formerly

Related symptoms:

  • Intellectual disability
  • Microcephaly
  • Hypertelorism
  • Micrognathia
  • Cleft palate


SOURCES: MESH OMIM MENDELIAN

More info about STROMME SYNDROME; STROMS

Fanconi anemia (FA) is a clinically and genetically heterogeneous disorder that causes genomic instability. Characteristic clinical features include developmental abnormalities in major organ systems, early-onset bone marrow failure, and a high predisposition to cancer. The cellular hallmark of FA is hypersensitivity to DNA crosslinking agents and high frequency of chromosomal aberrations pointing to a defect in DNA repair (summary by Deakyne and Mazin, 2011).For additional general information and a discussion of genetic heterogeneity of Fanconi anemia, see {227650}.

Related symptoms:

  • Global developmental delay
  • Growth delay
  • Hypertelorism
  • Neoplasm
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about FANCONI ANEMIA, COMPLEMENTATION GROUP L; FANCL

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

High match FRASER SYNDROME

Fraser syndrome is a rare clinical entity including as main characteristics cryptophthalmos and syndactyly.

FRASER SYNDROME Is also known as cryptophthalmos-syndactyly syndrome

Related symptoms:

  • Intellectual disability
  • Microcephaly
  • Hypertelorism
  • Cryptorchidism
  • High palate


SOURCES: ORPHANET MENDELIAN

More info about FRASER SYNDROME

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

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

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

Symptoms // Phenotype % cases
Renal dysplasia Common - Between 50% and 80% cases
Cleft palate Common - Between 50% and 80% cases
Wide nasal bridge Common - Between 50% and 80% cases
Cryptorchidism Uncommon - Between 30% and 50% cases
Low-set ears Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Abnormal facial shape Microphthalmia Hearing impairment Anal atresia Microcephaly Intellectual disability Micrognathia Prominent nasal bridge Epicanthus Cataract Renal insufficiency Micropenis Bilateral renal hypoplasia Proteinuria Renal agenesis Prominent nose Short stature Pulmonary hypoplasia Depressed nasal bridge Malar flattening Ambiguous genitalia Abnormal cardiac septum morphology

Rare Symptoms - Less than 30% cases

Growth delay Hypothyroidism Respiratory insufficiency Patent ductus arteriosus Renal cyst Encephalocele Omphalocele Scoliosis Bifid tongue Finger syndactyly Vaginal atresia Toe syndactyly Bicornuate uterus Tracheoesophageal fistula Multicystic kidney dysplasia Umbilical hernia Stage 5 chronic kidney disease Wide mouth Polydactyly Global developmental delay Preaxial polydactyly Cerebellar vermis hypoplasia Malabsorption Microtia Deep philtrum Deeply set eye Hypoplasia of the radius Dental malocclusion Cerebellar hypoplasia Absent thumb Hydrocephalus Cognitive impairment Ptosis Abnormal dermatoglyphics Wide intermamillary distance Hydronephrosis Hypoplasia of penis Oligohydramnios Blepharophimosis External ear malformation Mandibular prognathia Conductive hearing impairment Hernia Cleft lip Short nose Hypertension Short palpebral fissure Underdeveloped nasal alae Mixed hearing impairment Atrial septal defect Abnormality of cardiovascular system morphology Protruding ear Abnormality of the kidney Retrognathia Sensorineural hearing impairment Coloboma Ventricular septal defect Cleft upper lip Short philtrum Hyperechogenic kidneys Spina bifida Long face Bifid ureter Urethral valve Vesicoureteral reflux Recurrent urinary tract infections Narrow face Abnormality of the urinary system Horseshoe kidney Spina bifida occulta Anteverted ears Chronic kidney disease Absent toenail Hypoplastic helices Uterus didelphys Synostosis of carpal bones Ectopic kidney Poor eye contact Thickened helices Poor speech Autism Autistic behavior Wide pubic symphysis Abnormal lung lobation Myelomeningocele Tracheal stenosis Calvarial skull defect Ectopic anus Abnormal hair pattern Abnormal vagina morphology Subglottic stenosis Laryngeal stenosis Abnormality of the middle ear Female pseudohermaphroditism Urethral atresia Cryptophthalmos Cleft ala nasi Lacrimal duct aplasia Abnormality of the nervous system Hypoplasia of the corpus callosum Thin upper lip vermilion Absent fingernail Failure to thrive Dilatation Foot oligodactyly Crossed fused renal ectopia Anteverted nares Midline nasal groove Motor delay Delayed speech and language development Feeding difficulties Strabismus Generalized hypotonia Malformed lacrimal duct Decreased numbers of nephrons Acidosis Hepatomegaly Cholestatic liver disease Abnormality of dental enamel Long nose Renal tubular acidosis Narrow palate Hemivertebrae Congenital hip dislocation Short thumb Posterior embryotoxon Exocrine pancreatic insufficiency Poor coordination Abnormality of the genital system Abnormal form of the vertebral bodies Pulmonary artery stenosis Wolff-Parkinson-White syndrome Peripheral pulmonary artery stenosis Heart murmur Abnormality of the ribs High, narrow palate Convex nasal ridge Micromelia Congenital cataract Hip dislocation Proptosis Prominent forehead Butterfly vertebrae Syndactyly Frontal bossing Downslanted palpebral fissures Nystagmus Axenfeld anomaly Dark urine Renal hypoplasia/aplasia Abnormality of the metacarpal bones Abnormality of the skeletal system Retinopathy Abnormality of digit Pulmonic stenosis Pruritus Broad forehead Stroke Congenital hypothyroidism Oligodactyly Hypoplasia of the ulna Scarring Abnormality of the liver Jaundice Hypodontia Abnormal heart morphology Splenomegaly Cirrhosis Hepatic failure Vertebral segmentation defect Pigmentary retinopathy Rickets Pointed chin Increased body weight Cholestasis Coarctation of aorta Tetralogy of Fallot Cyanosis Ectropion Triangular face Laryngomalacia Systemic lupus erythematosus Radioulnar synostosis Hematuria Elbow dislocation Anal stenosis Respiratory failure Anophthalmia Telecanthus Abnormality of female internal genitalia Bilateral renal agenesis Abnormal sacrum morphology Nonketotic hypoglycemia Urogenital fistula Potter facies Urethral obstruction Sirenomelia Bilateral renal dysplasia Fetal polyuria Myopia Intellectual disability, severe Abnormality of the dentition Intellectual disability, moderate Non-midline cleft lip Everted lower lip vermilion Pancytopenia Thick lower lip vermilion Telangiectasia Bifid scrotum Congenital sensorineural hearing impairment Telangiectasia of the skin Hypoplastic nipples Aplasia/Hypoplasia of the nipples Chordee Myopathy Agenesis of corpus callosum Abnormality of the pinna Astigmatism Breech presentation Unilateral renal agenesis Microcornea 2-3 toe syndactyly Abnormality of metabolism/homeostasis Inguinal hernia Narrow mouth Abnormality of the eye Feeding difficulties in infancy Thin vermilion border Hypoplasia of the maxilla Bifid uvula Choanal atresia Preauricular skin tag Narrow palpebral fissure Abnormal palate morphology Abnormality of vision Eyelid coloboma Polycystic kidney dysplasia Hypomimic face Secundum atrial septal defect Unilateral cleft lip Median cleft palate Bilateral choanal atresia Lower eyelid coloboma Bilateral choanal atresia/stenosis Talipes equinovarus Talipes Falls Primary amenorrhea Depressed nasal ridge Abnormal intestine morphology Abnormality of the genitourinary system Iris coloboma Intestinal malrotation Atresia of the external auditory canal Flat acetabular roof Dandy-Walker malformation Limb undergrowth Bowing of the long bones Rhizomelia Short ribs Spontaneous abortion Microretrognathia Relative macrocephaly Thoracic hypoplasia Molar tooth sign on MRI Natal tooth Occipital encephalocele Bell-shaped thorax Thoracic dysplasia Narrow chest Hypoplastic pelvis Cleft soft palate Horizontal ribs Lobulated tongue Squared iliac bones Hypoplastic facial bones Unicoronal synostosis High palate Blindness Hypospadias Low-set, posteriorly rotated ears Oral cleft Dental crowding Scrotal hypoplasia Postaxial polydactyly Coarse facial features Optic nerve hypoplasia Anemia Short columella Sclerocornea Duodenal atresia Ectopia pupillae Sex reversal Peters anomaly Intestinal atresia Accessory spleen Retinal vascular tortuosity Hypoplastic iris stroma Jejunal atresia Corneal astigmatism Neoplasm Intrauterine growth retardation Skeletal dysplasia Short neck Leukemia Full cheeks Cafe-au-lait spot Bone marrow hypocellularity Esophageal atresia Chromosome breakage Depressed nasal tip Rectovaginal fistula Abnormality of chromosome stability Forearm undergrowth Hypoplastic sacrum Midface retrusion Macrotia Synostosis of joints


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Frontal bossing and Cerebral cortical atrophy, related diseases and genetic alterations Optic atrophy and Abnormality of the cerebral white matter, related diseases and genetic alterations High palate and Convex nasal ridge, related diseases and genetic alterations Peripheral neuropathy and Hypopigmentation of the skin, related diseases and genetic alterations Strabismus and Downturned corners of mouth, related diseases and genetic alterations