Abnormal facial shape, and Nephrotic syndrome

Diseases related with Abnormal facial shape and Nephrotic syndrome

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


Top matches:

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

Low match GALLOWAY-MOWAT SYNDROME 5; GAMOS5


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

Low match GALLOWAY-MOWAT SYNDROME 4; GAMOS4


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

Mendelian

Too many results?
We can help you with your rare disease diagnosis.

Learn more

Other less relevant matches:

Low match GALLOWAY-MOWAT SYNDROME 2, X-LINKED; GAMOS2


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 2, X-LINKED; GAMOS2

Low match JUNCTIONAL EPIDERMOLYSIS BULLOSA WITH RESPIRATORY AND RENAL INVOLVEMENT


Congenital nephrotic syndrome-interstitial lung disease-epidermolysis bullosa syndrome is a life-threatening multiorgan disorder which develops in the first months of life, presenting with respiratory distress and proteinuria in the nephrotic range, and leading to severe interstitial lung disease and renal failure. Some patients additionally display cutaneous alterations, ranging from blistering and skin erosions to an epidermolysis bullosa-like phenotype, with toe nail dystrophy and sparse hair.

JUNCTIONAL EPIDERMOLYSIS BULLOSA WITH RESPIRATORY AND RENAL INVOLVEMENT Is also known as jeb-rr|jeb with respiratory and renal involvement|congenital interstitial lung disease-nephrotic syndrome-epidermolysis bullosa syndrome|congenital nephrotic syndrome-interstitial lung disease-epidermolysis bullosa syndrome|congenital ilneb syndrome|conge

Related symptoms:

  • Microcephaly
  • Hypertelorism
  • Muscular hypotonia
  • Fever
  • Respiratory distress


SOURCES: OMIM ORPHANET MENDELIAN

More info about JUNCTIONAL EPIDERMOLYSIS BULLOSA WITH RESPIRATORY AND RENAL INVOLVEMENT

Low match SLC35A2-CDG


SLC35A2-CDG is a congenital disorder of glycosylation characterized by severe or profound global developmental delay, early epileptic encephalopathy, muscular hypotonia, dysmorphic features (coarse facies, thick eyebrows, broad nasal bridge, thick lips, inverted nipples), variable ocular defects and brain morphological abnormalities on brain MRI (cerebral atrophy, thin corpus callosum).

SLC35A2-CDG Is also known as cdg iim|congenital disorder of glycosylation type iim|cdgiim|eiee22|cdg2m|congenital disorder of glycosylation type 2m|cdg syndrome type iim|cdg-iim|epileptic encephalopathy, early infantile, 22

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about SLC35A2-CDG

Low match PERIVENTRICULAR NODULAR HETEROTOPIA


Periventricular nodular heterotopia (PNH) is a brain malformation, due to abnormal neuronal migration, in which a subset of neurons fails to migrate into the developing cerebral cortex and remains as nodules that line the ventricular surface. Classical PNH is a rare X-linked dominant disorder far more frequent in females who present normal intelligence to borderline intellectual deficit, epilepsy of variable severity and extra-central nervous system signs, especially cardiovascular defects or coagulopathy. The disorder is generally associated with prenatal lethality in males.

PERIVENTRICULAR NODULAR HETEROTOPIA Is also known as heterotopia, periventricular, ehlers-danlos variant|periventricular nodular heterotopia 4, formerly|heterotopia, familial nodular|heterotopia, periventricular, x-linked dominant|pvnh4, formerly|nhbp|nodular heterotopia, bilateral periventricular|bpnh

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Hypertelorism


SOURCES: OMIM ORPHANET MENDELIAN

More info about PERIVENTRICULAR NODULAR HETEROTOPIA

Low match CEDNIK SYNDROME


CEDNIK syndrome is a neurocutaneaous syndrome characterized by severe developmental abnormalities of the nervous system and aberrant differentiation of the epidermis.

CEDNIK SYNDROME Is also known as cerebral dysgenesis-neuropathy-ichthyosis-palmoplantar keratoderma syndrome|cednik syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about CEDNIK SYNDROME

Low match X-LINKED INTELLECTUAL DISABILITY, CANTAGREL TYPE


X-linked Mental retardation Cantagrel type is characterised by marked neonatal hypotonia, progressive quadriparesia, severely delayed developmental milestones (walking at 3 years of age), gastroesophageal reflux, stereotypic movements of the hands, esotropia and infantile autism.

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY, CANTAGREL TYPE

Low match INFANTILE SIALIC ACID STORAGE DISEASE; ISSD


Sialic acid storage diseases are autosomal recessive neurodegenerative disorders that may present as a severe infantile form (ISSD) or as a slowly progressive adult form that is prevalent in Finland (Salla disease). The main symptoms are hypotonia, cerebellar ataxia, and mental retardation; visceromegaly and coarse features are also present in the infantile cases. Progressive cerebellar atrophy and dysmyelination have been documented by MRI. Enlarged lysosomes are seen on electron microscopic studies, and patients excrete large amounts of free sialic acid in the urine (Verheijen et al., 1999).

INFANTILE SIALIC ACID STORAGE DISEASE; ISSD Is also known as nsd|sialuria, infantile form|n-acetylneuraminic acid storage disease|nana storage disease

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about INFANTILE SIALIC ACID STORAGE DISEASE; ISSD

Top 5 symptoms//phenotypes associated to Abnormal facial shape and Nephrotic syndrome

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Proteinuria Common - Between 50% and 80% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Hypertelorism

Uncommon Symptoms - Between 30% and 50% cases


Generalized hypotonia Cerebral atrophy Glomerulosclerosis Focal segmental glomerulosclerosis Ataxia Feeding difficulties Cerebellar hypoplasia Macrotia Stage 5 chronic kidney disease Short stature Spasticity Wide nasal bridge Cerebellar atrophy Nystagmus Hearing impairment Polymicrogyria Hypoplasia of the corpus callosum Delayed speech and language development Failure to thrive Muscular hypotonia Severe global developmental delay Arachnodactyly

Rare Symptoms - Less than 30% cases


Pachygyria Recurrent infections Round face Cortical dysplasia Micrognathia Generalized-onset seizure Stroke Renal insufficiency Sensorineural hearing impairment Absent speech Respiratory tract infection Encephalopathy Agenesis of corpus callosum Gastroesophageal reflux Coarse facial features Dilatation Hypsarrhythmia Open mouth Intellectual disability, severe Shawl scrotum Anteverted nares Mandibular prognathia Growth delay Diffuse mesangial sclerosis Esotropia Visual impairment Epicanthus Narrow forehead Strabismus Prominent nasal bridge Congestive heart failure High palate Ventriculomegaly Postnatal growth retardation Abnormality of peripheral nerve conduction Short chin Progressive microcephaly Intellectual disability, progressive Autistic behavior Short philtrum Poor speech Palmoplantar keratoderma Depressed nasal ridge Muscular hypotonia of the trunk EEG abnormality Aggressive behavior Short nose Perisylvian polymicrogyria Diffuse palmoplantar keratoderma Optic disc hypoplasia Palmoplantar hyperkeratosis Abnormality of vision Brachydactyly Poor head control Clinodactyly Neonatal hypotonia Clinodactyly of the 5th finger Constipation Hyperactivity Cerebral cortical atrophy Gait ataxia Autism Hypothyroidism Abnormal corpus callosum morphology Thin vermilion border Poor eye contact Single transverse palmar crease Hydrops fetalis Osteopenia Hepatosplenomegaly Corneal opacity Abnormality of the foot Hypopigmentation of the skin Ascites Premature birth Cardiomegaly Gingival overgrowth Aspiration Hernia Abnormality of the thorax Metaphyseal irregularity Esophageal atresia Fair hair Dysostosis multiplex Conjugated hyperbilirubinemia Visceromegaly Vacuolated lymphocytes J-shaped sella turcica Inguinal hernia Splenomegaly Generalized myoclonic seizures Tented upper lip vermilion Urinary incontinence Underdeveloped nasal alae Status epilepticus Tetraparesis Postnatal microcephaly Stereotypy Finger clinodactyly Absence seizures Drooling Coarse hair Edema Long nose Abnormality of the musculature Long face Protruding tongue Central hypothyroidism Ptosis Hepatomegaly Abnormality of the skeletal system Hydrocephalus Polyneuropathy Mitral regurgitation Ichthyosis Neonatal respiratory distress Sparse scalp hair Abnormal lung morphology Sparse and thin eyebrow Gynecomastia Recurrent pneumonia Sparse eyelashes Hypoalbuminemia Ectopic kidney Cyanosis Interstitial pulmonary abnormality Fragile skin Tubular atrophy Onycholysis Decreased glomerular filtration rate Crossed fused renal ectopia Respiratory acidosis Junctional split Fine hair Abnormal blistering of the skin Thick eyebrow Dysmetria Abnormality of the cerebral white matter Deeply set eye Brain atrophy Peripheral demyelination Tapered finger Scoliosis Intrauterine growth retardation Minimal change glomerulonephritis Narrow chest Fever Respiratory distress Pneumonia Recurrent respiratory infections Prominent forehead Narrow mouth Erythema Nail dystrophy Rod-cone dystrophy Thick vermilion border Abnormality of eye movement Subependymal nodules Abnormality of the coagulation cascade Abnormality of neuronal migration Emphysema Enlarged cisterna magna Widow's peak Dyslexia Congenital nephrotic syndrome Depressed nasal bridge Patent foramen ovale Peripheral neuropathy Optic atrophy Downslanted palpebral fissures Abnormality of the dentition Areflexia Hypogonadism Abnormality of the eye Dolichocephaly Aortic aneurysm Bicuspid aortic valve Delayed myelination Patent ductus arteriosus Epileptic encephalopathy Epileptic spasms Aplasia/hypoplasia of the extremities Ocular flutter Cryptorchidism Intellectual disability, mild Syndactyly Micropenis Aortic regurgitation Skeletal dysplasia Confusion Joint hypermobility Intestinal malrotation Focal-onset seizure Myocardial infarction Heterotopia Lissencephaly Fetal ascites



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Dysarthria and Schizophrenia, related diseases and genetic alterations Congestive heart failure and Elevated hepatic transaminase, related diseases and genetic alterations Fever and Retinal dystrophy, related diseases and genetic alterations Spasticity and Split hand, related diseases and genetic alterations Hypertelorism and Feeding difficulties in infancy, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more