Hypertelorism, and Abnormality of the kidney

Diseases related with Hypertelorism and Abnormality of the kidney

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

Top matches:

Related symptoms:

  • Hypertelorism
  • Abnormality of the kidney
  • Short philtrum
  • Bulbous nose
  • Renal agenesis


SOURCES: OMIM MENDELIAN

More info about BIFID NOSE WITH OR WITHOUT ANORECTAL AND RENAL ANOMALIES; BNAR

OROFACIODIGITAL SYNDROME XV; OFD15 Is also known as oral-facial-digital syndrome, type xv|ofds xv

Related symptoms:

  • Hypertelorism
  • Abnormal facial shape
  • Wide nasal bridge
  • Ventriculomegaly
  • Anteverted nares


SOURCES: OMIM MENDELIAN

More info about OROFACIODIGITAL SYNDROME XV; OFD15

The peroxisomal biogenesis disorder (PBD) Zellweger syndrome (ZS) is an autosomal recessive multiple congenital anomaly syndrome. Affected children present in the newborn period with profound hypotonia, seizures, and inability to feed. Characteristic craniofacial anomalies, eye abnormalities, neuronal migration defects, hepatomegaly, and chondrodysplasia punctata are present. Children with this condition do not show any significant development and usually die in the first year of life (summary by Steinberg et al., 2006).For a complete phenotypic description and a discussion of genetic heterogeneity of Zellweger syndrome, see {214100}.Individuals with PBDs of complementation group 4 (CG4, equivalent to CG6 and CGC) have mutations in the PEX6 gene. For information on the history of PBD complementation groups, see {214100}.

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Hypertelorism
  • Depressed nasal bridge
  • Epicanthus


SOURCES: OMIM MESH MENDELIAN

More info about PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER); PBD4A

Other less relevant matches:

Intellectual developmental disorder with neuropsychiatric features is an autosomal recessive disorder characterized by moderate intellectual disability, relatively mild seizures, and neuropsychiatric abnormalities, such as anxiety, obsessive-compulsive behavior, and autistic features. Mild facial dysmorphic features may also be present (summary by Srour et al., 2017).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hypertelorism


SOURCES: OMIM MENDELIAN

More info about INTELLECTUAL DEVELOPMENTAL DISORDER WITH NEUROPSYCHIATRIC FEATURES; IDDNPF

SIX2-RELATED FRONTONASAL DYSPLASIA Is also known as six2-related fnd

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hypertelorism
  • Ptosis
  • Depressed nasal bridge


SOURCES: ORPHANET MENDELIAN

More info about SIX2-RELATED FRONTONASAL DYSPLASIA

Galloway-Mowat syndrome is a renal-neurologic disease characterized by early-onset nephrotic syndrome associated with microcephaly, gyral abnormalities, and delayed psychomotor development. Most patients have dysmorphic facial features, often including hypertelorism and ear abnormalities. Other features, such as arachnodactyly and visual or hearing 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
  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about GALLOWAY-MOWAT SYNDROME 5; GAMOS5

Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by Huber and Cormier-Daire, 2012 and Schmidts et al., 2013).There is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, {218330}).For a discussion of genetic heterogeneity of short-rib thoracic dysplasia with or without polydactyly, see SRTD1 (OMIM ).

Related symptoms:

  • Hypertelorism
  • Epicanthus
  • Brachydactyly
  • Ventriculomegaly
  • Respiratory insufficiency


SOURCES: OMIM MENDELIAN

More info about SHORT-RIB THORACIC DYSPLASIA 18 WITH POLYDACTYLY; SRTD18

Oral-facial-digital syndrome, type 5 is characterized by median cleft of the upper lip, postaxial polydactyly of hands and feet, and oral manifestations (duplicated frenulum).

OROFACIODIGITAL SYNDROME TYPE 5 Is also known as polydactyly postaxial with median cleft of upper lip|oral-facial-digital syndrome type 5|polydactyly, postaxial, with median cleft of upper lip|oral-facial-digital syndrome, type v|thurston syndrome|ofd5|orofaciodigital syndrome, thurston type|ofds v

Related symptoms:

  • Intellectual disability
  • Scoliosis
  • Hypertelorism
  • Cleft palate
  • Frontal bossing


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about OROFACIODIGITAL SYNDROME TYPE 5

Low match GRANGE SYNDROME

Grange syndrome is characterised by stenosis or occlusion of multiple arteries (including the renal, cerebral and abdominal vessels), hypertension, brachysyndactyly, syndactyly, increased bone fragility, and learning difficulties or borderline intellectual deficit. Congenital heart defects were also reported in some cases.

GRANGE SYNDROME Is also known as arterial occlusive disease, progressive, with hypertension, heart defects, bone fragility, and brachysyndactyly|grange occlusive arterial syndrome|progressive arterial occlusive disease-hypertension-heart defects-bone fragility-brachysyndactyly syndrome

Related symptoms:

  • Intellectual disability
  • Hypertelorism
  • Failure to thrive
  • Abnormal facial shape
  • Pain


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about GRANGE SYNDROME

Galloway-Mowat syndrome is a renal-neurologic disease characterized by early-onset nephrotic syndrome associated with microcephaly, gyral abnormalities, 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:

  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about GALLOWAY-MOWAT SYNDROME 4; GAMOS4

Top 5 symptoms//phenotypes associated to Hypertelorism and Abnormality of the kidney

Symptoms // Phenotype % cases
Abnormal facial shape Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Depressed nasal bridge Uncommon - Between 30% and 50% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Hypertelorism and Abnormality of the kidney. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Seizures Postaxial polydactyly Polydactyly Ventriculomegaly Epicanthus

Rare Symptoms - Less than 30% cases

Stage 5 chronic kidney disease Glomerulosclerosis Brachydactyly Ventricular septal defect Abnormal heart morphology Epicanthus inversus Syndactyly Microcephaly Spasticity Short stature Thin upper lip vermilion Focal segmental glomerulosclerosis Frontal bossing Lobulated tongue Cerebral atrophy Nephrotic syndrome Proteinuria Agenesis of corpus callosum Arachnodactyly Postaxial hand polydactyly Bifid uvula Aganglionic megacolon Cleft upper lip Horseshoe kidney Cleft palate Cystic hygroma Scoliosis Vertebral wedging Platyspondyly Hypoplastic ischia Thoracic dysplasia Oral cleft Preaxial polydactyly Polycystic kidney dysplasia Short ribs Narrow chest Intestinal malrotation Micromelia Median cleft lip Patent ductus arteriosus Postaxial foot polydactyly Carotid artery stenosis Gastritis Arterial stenosis Intellectual disability, borderline Coronary artery stenosis Renal artery stenosis Renovascular hypertension Micrognathia Cutaneous finger syndactyly Feeding difficulties Delayed speech and language development Visual impairment Cerebellar hypoplasia Macrotia Polymicrogyria Tapered finger Perimembranous ventricular septal defect Increased susceptibility to fractures Failure to thrive Abdominal pain Pain Hypertension Cardiomyopathy Renal insufficiency Dilatation Clinodactyly Pulmonic stenosis Bicuspid aortic valve Short palm Recurrent fractures Specific learning disability Decreased body weight Finger clinodactyly Aortic regurgitation Cutaneous syndactyly Cleft lip Mandibular prognathia Hydrocephalus Hepatomegaly Smooth philtrum Intellectual disability, moderate Anxiety Absent speech Downslanted palpebral fissures Calcific stippling Generalized neonatal hypotonia Epiphyseal stippling Renal cyst Feeding difficulties in infancy Respiratory failure Upslanted palpebral fissure Molar tooth sign on MRI Highly arched eyebrow Broad hallux Flat face Hydronephrosis Anteverted nares Wide nasal bridge Rectal atresia Bifid nose Rectovaginal fistula Anteriorly placed anus Overlapping toe Renal agenesis Bulbous nose Short philtrum Thin vermilion border Triangular face Respiratory insufficiency Abnormality of the thyroid gland Pachygyria Peripheral demyelination Brain atrophy Deeply set eye Ataxia Hearing impairment Aplasia/Hypoplasia of the frontal sinuses Prominent palatine ridges Premature posterior fontanelle closure Absent/hypoplastic paranasal sinuses Abnormality of the skull base Metopic synostosis Wide anterior fontanel Focal-onset seizure Broad nasal tip Small for gestational age High forehead Posteriorly rotated ears Macrocephaly Intrauterine growth retardation Ptosis Obsessive-compulsive trait Hyperparathyroidism Unilateral renal agenesis Obsessive-compulsive behavior Nephrocalcinosis Generalized-onset seizure Diffuse mesangial sclerosis


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