Abnormal facial shape, and Abnormality of the kidney

Diseases related with Abnormal facial shape and Abnormality of the kidney

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


Top matches:

Low match RENAL HYPODYSPLASIA/APLASIA 2; RHDA2


Renal hypodysplasia/aplasia belongs to a group of perinatally lethal renal diseases, including bilateral renal aplasia, unilateral renal agenesis with contralateral dysplasia (URA/RD), and severe obstructive uropathy. Renal aplasia falls at the most severe end of the spectrum of congenital anomalies of the kidney and urinary tract (CAKUT ), and usually results in death in utero or in the perinatal period. Families have been documented in which bilateral renal agenesis or aplasia coexists with unilateral renal aplasia, renal dysplasia, or renal aplasia with renal dysplasia, suggesting that these conditions may belong to a pathogenic continuum or phenotypic spectrum (summary by Joss et al., 2003; Humbert et al., 2014).For a discussion of genetic heterogeneity of renal hypodysplasia/aplasia, see RHDA1 (OMIM ).

Related symptoms:

  • Falls
  • Pulmonary hypoplasia
  • Renal agenesis
  • Renal dysplasia
  • Redundant skin


SOURCES: OMIM MENDELIAN

More info about RENAL HYPODYSPLASIA/APLASIA 2; RHDA2

Low match BRANCHIOOTORENAL SYNDROME 2; BOR2


Related symptoms:

  • Hearing impairment
  • Renal insufficiency
  • Renal agenesis
  • Renal hypoplasia
  • Renal dysplasia


SOURCES: OMIM MENDELIAN

More info about BRANCHIOOTORENAL SYNDROME 2; BOR2

Low match FAMILIAL STEROID-RESISTANT NEPHROTIC SYNDROME WITH SENSORINEURAL DEAFNESS


Familial steroid-resistant nephrotic syndrome with sensorineural deafness is a rare, genetic coenzyme Q10 deficiency characterized by sensorineural deafness and severe, progressive nephrotic syndrome not responding to steroid treatment. Clinical manifestations include early onset proteinuria, hypoalbuminemia and edema, leading to end-stage renal disease. The renal biopsy reveals focal segmental glomerulosclerosis and diffuse mesangial sclerosis. Rarely, seizures, ataxia and dysmorphic features have been described.

Related symptoms:

  • Seizures
  • Hearing impairment
  • Ataxia
  • Sensorineural hearing impairment
  • Abnormal facial shape


SOURCES: OMIM ORPHANET MENDELIAN

More info about FAMILIAL STEROID-RESISTANT NEPHROTIC SYNDROME WITH SENSORINEURAL DEAFNESS

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Other less relevant matches:

Low match OROFACIODIGITAL SYNDROME XV; OFD15


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

Low match NEPHRONOPHTHISIS 20; NPHP20


Nephronophthisis-20 is an autosomal recessive tubulointerstitial nephritis characterized by progressive renal fibrosis resulting in end-stage renal failure. The age at onset is relatively late compared to other forms of NPHP, and patients develop end-stage renal disease in the second or third decades. Unlike most other forms of NPHP, NPHP20 does not have features of a ciliopathy and patients do not appear to have extrarenal manifestations (summary by Macia et al., 2017).For a general phenotypic description and a discussion of genetic heterogeneity of nephronophthisis, see NPHP1 (OMIM ).

Related symptoms:

  • Short stature
  • Scoliosis
  • Abnormal facial shape
  • Renal insufficiency
  • Rod-cone dystrophy


SOURCES: OMIM MENDELIAN

More info about NEPHRONOPHTHISIS 20; NPHP20

Low match JOUBERT SYNDROME 22; JBTS22


Related symptoms:

  • Global developmental delay
  • Growth delay
  • Abnormal facial shape
  • Intrauterine growth retardation
  • Syndactyly


SOURCES: OMIM MENDELIAN

More info about JOUBERT SYNDROME 22; JBTS22

Low match MENTAL RETARDATION, AUTOSOMAL RECESSIVE 6; MRT6


Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Abnormal facial shape
  • Cognitive impairment


SOURCES: OMIM MESH MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL RECESSIVE 6; MRT6

Low match AUTOSOMAL RECESSIVE INFANTILE HYPERCALCEMIA


Autosomal recessive infantile hypercalcemia is a rare, genetic, phosphocalcic metabolism disorder characterized by early-onset hypercalcemia, hypophosphatemia, hypercalciuria, decreased intact parathyroid hormone serum levels and medullary nephrocalcinosis, typically manifesting with failure to thrive, hypotonia, vomiting, constipation and/or polyuria.

AUTOSOMAL RECESSIVE INFANTILE HYPERCALCEMIA Is also known as familial infantile hypercalcemia with suppressed intact parathyroid hormone|hypercalcemia, idiopathic, of infancy

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Failure to thrive
  • Muscular hypotonia
  • Vomiting


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE INFANTILE HYPERCALCEMIA

Low match POLYCYSTIC KIDNEY DISEASE 2 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE; PKD2


Type 2 ADPKD is linked to gene mutation at the PKD2 locus on the long arm of CHROMOSOME 4.

POLYCYSTIC KIDNEY DISEASE 2 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE; PKD2 Is also known as polycystic kidney disease, adult, type ii|apkd2

Related symptoms:

  • Hypertension
  • Renal insufficiency
  • Midface retrusion
  • Respiratory failure
  • Abnormality of the kidney


SOURCES: OMIM MENDELIAN

More info about POLYCYSTIC KIDNEY DISEASE 2 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE; PKD2

Low match INTELLECTUAL DEVELOPMENTAL DISORDER WITH NEUROPSYCHIATRIC FEATURES; IDDNPF


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

Top 5 symptoms//phenotypes associated to Abnormal facial shape and Abnormality of the kidney

Symptoms // Phenotype % cases
Renal insufficiency Uncommon - Between 30% and 50% cases
Polydactyly Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Abnormal facial shape and Abnormality of the kidney. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Stage 5 chronic kidney disease

Rare Symptoms - Less than 30% cases


Nephrocalcinosis Situs inversus totalis Renal cyst Molar tooth sign on MRI Postaxial polydactyly Hypertelorism Generalized hypotonia Renal hypoplasia Unilateral renal agenesis Hearing impairment Renal agenesis Renal dysplasia Polyuria Respiratory failure Midface retrusion Hypertension Elfin facies Hyperparathyroidism Medullary nephrocalcinosis Infantile hypercalcemia Thin vermilion border Hypercalcemia Hypercalciuria Aortic valve stenosis Nephrolithiasis Thick lower lip vermilion Dehydration Pulmonic stenosis Lethargy Abnormality of the eye Weight loss Obsessive-compulsive behavior Hematuria Facial asymmetry Multiple glomerular cysts Highly arched eyebrow Intellectual disability, moderate Anxiety Triangular face Thin upper lip vermilion Absent speech Focal-onset seizure Downslanted palpebral fissures Depressed nasal bridge Renal cortical cysts Smooth philtrum Hepatic cysts Elevated serum creatinine Dextrocardia Polycystic kidney dysplasia Vomiting Multicystic kidney dysplasia Recurrent urinary tract infections Oligohydramnios Generalized-onset seizure Nephropathy Falls Retinal dysplasia Muscular hypotonia Proteinuria Agenesis of corpus callosum Anteverted nares Ventriculomegaly Wide nasal bridge Diffuse mesangial sclerosis Focal segmental glomerulosclerosis Glomerulosclerosis Nephrotic syndrome Abnormality of the cerebral white matter Sensorineural hearing impairment Flat face Ataxia Bilateral renal dysplasia Hemifacial hypoplasia Severe hearing impairment Preauricular pit Preauricular skin tag Potter facies Bilateral renal agenesis Redundant skin Hydronephrosis Broad hallux Failure to thrive Coloboma Myoclonus Dystonia Tremor Cognitive impairment Undetectable electroretinogram Pulmonary hypoplasia Postaxial foot polydactyly Foot polydactyly Postaxial hand polydactyly Microphthalmia Lobulated tongue Syndactyly Intrauterine growth retardation Growth delay Renal fibrosis Tubulointerstitial nephritis Nephronophthisis Nephritis Rod-cone dystrophy Scoliosis Short stature Obsessive-compulsive trait



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