Microcephaly, and Stage 5 chronic kidney disease

Diseases related with Microcephaly and Stage 5 chronic kidney disease

In the following list you will find some of the most common rare diseases related to Microcephaly and Stage 5 chronic kidney disease that can help you solving undiagnosed cases.


Top matches:

High 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

High 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

High 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

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Other less relevant matches:

High match DEAFNESS-INTELLECTUAL DISABILITY SYNDROME, MARTIN-PROBST TYPE


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

High match FAMILIAL STEROID-RESISTANT NEPHROTIC SYNDROME WITH ADRENAL INSUFFICIENCY


NPHS14 is an autosomal recessive syndromic form of steroid-resistant nephrotic syndrome with multisystemic manifestations. Most affected individuals present in infancy or early childhood with progressive renal dysfunction associated with focal segmental glomerulosclerosis (FSGS) and resulting in end-stage renal disease within a few years. Other infants present with primary adrenal insufficiency. Some patients present in utero with fetal hydrops and fetal demise. Additional features of the disorder can include ichthyosis, acanthosis, adrenal insufficiency, immunodeficiency, and neurologic defects (summary by Prasad et al., 2017 and Lovric et al., 2017).For a discussion of genetic heterogeneity of nephrotic syndrome and FSGS, see NPHS1 (OMIM ).

FAMILIAL STEROID-RESISTANT NEPHROTIC SYNDROME WITH ADRENAL INSUFFICIENCY Is also known as primary adrenal insufficiency-steroid-resistant nephrotic syndrome due to sgpl1 deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about FAMILIAL STEROID-RESISTANT NEPHROTIC SYNDROME WITH ADRENAL INSUFFICIENCY

High match PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA-MYOPATHY-EMACIATION SYNDROME


Progressive external ophthalmoplegia-myopathy-emaciation syndrome is a rare mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies characterized by progressive external ophthalmoplegia without diplopia, cerebellar atrophy, proximal skeletal muscle weakness with generalized muscle wasting, profound emaciation, respiratory failure, spinal deformity and facial muscle weakness (manifesting with ptosis, dysphonia, dysphagia and nasal speech). Intellectual disability, gastrointestinal symptoms (e.g. nausea, abdominal fullness, and loss of appetite), dilated cardiomyopathy and renal colic have also been reported.

PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA-MYOPATHY-EMACIATION SYNDROME Is also known as mitochondrial dna maintenance syndrome due to mgme1 deficiency|peo-myopathy-emaciation syndrome|mtdna maintenance syndrome due to mgme1 deficiency

Related symptoms:

  • Intellectual disability
  • Microcephaly
  • Muscle weakness
  • Ptosis
  • Skeletal muscle atrophy


SOURCES: ORPHANET OMIM MENDELIAN

More info about PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA-MYOPATHY-EMACIATION SYNDROME

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


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

High match GALLOWAY-MOWAT SYNDROME 3; GAMOS3


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 3; GAMOS3

High match OROFACIODIGITAL SYNDROME I; OFD1


Orofaciodigital syndrome type I (OFD1) is characterized by malformations of the face, oral cavity, and digits and is transmitted as an X-linked dominant condition with lethality in males. Thickened alveolar ridges and abnormal dentition, including absent lateral incisors, are additional characteristics of OFD1. The central nervous system may also be involved in as many as 40% of cases. Although these clinical features overlap those reported in other forms of orofaciodigital syndrome, OFD1 can be easily distinguished from among these by its X-linked dominant inheritance pattern and by polycystic kidney disease, which seems to be specific to type I (summary by Ferrante et al., 2001).Since the CXORF5 gene localizes to the centrosome and basal body of primary cilia, OFD1 is considered to be a ciliopathy (Chetty-John et al., 2010).

OROFACIODIGITAL SYNDROME I; OFD1 Is also known as oral-facial-digital syndrome, type i|papillon-leage and psaume syndrome|ofds i

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Hearing impairment
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about OROFACIODIGITAL SYNDROME I; OFD1

High match CRANIOECTODERMAL DYSPLASIA


Cranioectodermal dysplasia (CED) is a rare developmental disorder characterized by congenital skeletal and ectodermal defects associated with dysmorphic features, nephronophthisis, hepatic fibrosis and ocular anomalies (mainly retinitis pigmentosa).

CRANIOECTODERMAL DYSPLASIA Is also known as levin syndrome i|sensenbrenner syndrome|ced

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Growth delay
  • Nystagmus


SOURCES: OMIM ORPHANET MENDELIAN

More info about CRANIOECTODERMAL DYSPLASIA

Top 5 symptoms//phenotypes associated to Microcephaly and Stage 5 chronic kidney disease

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Proteinuria Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Hypertelorism Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Microcephaly and Stage 5 chronic kidney disease. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Short stature

Uncommon Symptoms - Between 30% and 50% cases


Hearing impairment

Common Symptoms - More than 50% cases


Epicanthus

Uncommon Symptoms - Between 30% and 50% cases


Abnormal facial shape Seizures Renal insufficiency Micrognathia Nephrotic syndrome Glomerulosclerosis Focal segmental glomerulosclerosis Wide nasal bridge High palate Growth delay Cerebellar hypoplasia Cryptorchidism Delayed speech and language development Low-set ears Arachnodactyly Cerebral atrophy Spasticity Micropenis Telecanthus Chronic kidney disease Anteverted nares Cerebellar atrophy Abnormality of the dentition Visual impairment Nystagmus Strabismus Diffuse mesangial sclerosis Feeding difficulties Hypocalcemia

Rare Symptoms - Less than 30% cases


Edema Respiratory insufficiency Congestive heart failure Ichthyosis Abnormality of the nervous system Hypogonadism Ptosis Radial deviation of finger Respiratory failure Hepatic cysts Hypoplasia of the corpus callosum Dilatation Abnormality of the kidney Oligohydramnios Renal hypoplasia Hepatic fibrosis Hypoplasia of dental enamel Downslanted palpebral fissures Sparse hair Pectus excavatum Clinodactyly Frontal bossing Brachydactyly Renal dysplasia Hypoalbuminemia Intrauterine growth retardation Myopia Polymicrogyria Ataxia Sensorineural hearing impairment Everted lower lip vermilion Ventriculomegaly Scoliosis Hypothyroidism Pachygyria Hernia Deeply set eye Narrow forehead Bifid tongue Abnormal cortical gyration Tubulointerstitial nephritis Myelomeningocele Arachnoid cyst Increased number of teeth Atrioventricular canal defect Median cleft lip Dry hair Abnormality of the pancreas Ovarian cyst Agenesis of permanent teeth Short nail Interstitial pneumonitis Porencephalic cyst Thin nail Pancreatic cysts Deviation of finger Narrow naris Lobulated tongue Tongue nodules Hypothalamic hamartoma Nephronophthisis Polycystic kidney dysplasia Tubulointerstitial abnormality Abnormality of the cerebral white matter Dysarthria Tremor Hydrocephalus Syndactyly Depressivity Broad distal phalanges of all fingers Abnormal heart morphology Alopecia Agenesis of corpus callosum Polydactyly Cleft lip Incisional hernia Renal magnesium wasting Milia Carious teeth Facial asymmetry Oral cleft Postaxial polydactyly Abnormal cerebellum morphology Bifid uvula Underdeveloped nasal alae Broad toe Microretrognathia Cutaneous syndactyly Alveolar ridge overgrowth Molar tooth sign on MRI Gray matter heterotopias Trident hand Multiple glomerular cysts Slow-growing hair Abnormality of the metaphysis Abnormal diaphysis morphology Omphalocele Rhizomelia Short toe Short ribs Abnormality of dental enamel Abnormality of the fingernails Cutis laxa Widely spaced teeth Sagittal craniosynostosis Bicuspid aortic valve Redundant skin Fine hair Abnormal toenail morphology Elevated serum creatinine Cupped ear Abnormality of dental morphology Thoracic hypoplasia Short thorax Prominent occiput High hypermetropia Short humerus Fibular hypoplasia Protuberant abdomen Anodontia Scaphocephaly Cleft palate Hypotelorism Abnormality of toe Finger syndactyly Taurodontia Hepatomegaly Abnormality of the skeletal system Abnormality of cardiovascular system morphology Clinodactyly of the 5th finger Osteoporosis High forehead Photophobia Joint laxity Postnatal growth retardation Protruding ear Craniosynostosis Flattened epiphysis Dolichocephaly Limb undergrowth Narrow chest Joint hyperflexibility Hepatic failure Short distal phalanx of finger Retinal dystrophy Abnormality of the abdominal wall High, narrow palate Nephropathy Single transverse palmar crease Hypodontia Full cheeks Ectodermal dysplasia Microdontia Hypertension Spina bifida Hypertensive crisis Congenital nephrotic syndrome Developmental regression Retinopathy Focal-onset seizure Epidermal acanthosis Hypertriglyceridemia Lymphopenia Recurrent bacterial infections Focal impaired awareness seizure Adrenal insufficiency Primary adrenal insufficiency Primary hypothyroidism Steroid-resistant nephrotic syndrome Absent testis Hypoglycemia Muscle weakness Skeletal muscle atrophy Dysphagia Cardiomyopathy Diarrhea Kyphosis Recurrent infections Arrhythmia Hyporeflexia Elevated serum creatine phosphokinase Dyspnea Proximal muscle weakness Facial palsy Mental deterioration Immunodeficiency Ophthalmoplegia Wide mouth Mandibular prognathia Brain atrophy Peripheral demyelination Macrotia Tapered finger Dysmetria Esotropia Minimal change glomerulonephritis Cataract Intellectual disability, severe Malar flattening Umbilical hernia Intellectual disability, moderate Blepharophimosis Peripheral neuropathy Dental malocclusion Wide intermamillary distance Hypoplasia of penis Pancytopenia Thick lower lip vermilion Telangiectasia Abnormal dermatoglyphics Bifid scrotum Congenital sensorineural hearing impairment Telangiectasia of the skin Hypoplastic nipples Aplasia/Hypoplasia of the nipples Chordee Dilated cardiomyopathy Limb muscle weakness Hand clenching Microphthalmia Deep philtrum Ectopic kidney Poor eye contact Thickened helices Hyperechogenic kidneys Anteverted ears Uterus didelphys Hypoplastic helices Urethral valve Bifid ureter Decreased numbers of nephrons Failure to thrive Midface retrusion Spina bifida occulta Narrow mouth Camptodactyly Coloboma Hip dislocation Convex nasal ridge Sloping forehead Coarctation of aorta Postnatal microcephaly Leukodystrophy Lissencephaly Hypoplastic left heart Cortical gyral simplification Corpus callosum atrophy Abnormality of the urinary system Horseshoe kidney Nausea Progressive external ophthalmoplegia Generalized muscle weakness Amenorrhea Primary amenorrhea Hypergonadotropic hypogonadism Exercise intolerance External ophthalmoplegia Respiratory insufficiency due to muscle weakness Ragged-red muscle fibers Easy fatigability Dysphonia Nasal speech Generalized amyotrophy Spinal rigidity Proximal amyotrophy Narrow face Spinal deformities Motor delay Autism Thin upper lip vermilion Autistic behavior Abnormal cardiac septum morphology Microtia Poor speech Long face Vesicoureteral reflux Renal agenesis Ambiguous genitalia Recurrent urinary tract infections Malformation of the hepatic ductal plate



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Intellectual disability, severe and Oral cleft, related diseases and genetic alterations Brachydactyly and Increased body weight, related diseases and genetic alterations Edema and Patent ductus arteriosus, related diseases and genetic alterations Myopathy and Lymphadenopathy, related diseases and genetic alterations Myopathy and Neonatal hypotonia, related diseases and genetic alterations Pain and Wide intermamillary distance, related diseases and genetic alterations

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