Cognitive impairment, and Hydronephrosis

Diseases related with Cognitive impairment and Hydronephrosis

In the following list you will find some of the most common rare diseases related to Cognitive impairment and Hydronephrosis that can help you solving undiagnosed cases.


Top matches:

Medium match MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 13; MDDGA13


Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A) is a autosomal recessive disorder associated with severe neurologic defects and resulting in early infantile death. The phenotype includes the alternative clinical designations Walker-Warburg syndrome (WWS) and muscle-eye-brain disease (MEB). The disorder represents the most severe end of a phenotypic spectrum of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1 ), collectively known as dystroglycanopathies (summary by Buysse et al., 2013).For a general phenotypic description and a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type A, see MDDGA1 (OMIM ).

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 13; MDDGA13 Is also known as walker-warburg syndrome or muscle-eye-brain disease, b3gnt1-related

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Cryptorchidism
  • Spasticity


SOURCES: OMIM MENDELIAN

More info about MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 13; MDDGA13

Medium match STROMME SYNDROME; STROMS


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

Medium match PRUNE BELLY SYNDROME


Prune belly syndrome is a rare congenital disorder, belonging to the group of fetal lower urinary tract obstructions (LUTO), involving variable dilation of the lower urinary tract in association with partial or complete absence of the lateral and inferior abdominal wall musculature and in males bilateral non-palpable undescended testes.

PRUNE BELLY SYNDROME Is also known as abdominal muscles, absence of, with urinary tract abnormality and cryptorchidism|abdominal muscle deficiency syndrome|eagle-barret syndrome|eagle-barrett syndrome|triad syndrome|egbrs|obrinsky syndrome

Related symptoms:

  • Scoliosis
  • Failure to thrive
  • Cryptorchidism
  • Cognitive impairment
  • Ventricular septal defect


SOURCES: OMIM ORPHANET MENDELIAN

More info about PRUNE BELLY SYNDROME

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Other less relevant matches:

Medium match 1P31P32 MICRODELETION SYNDROME


1p31p32 microdeletion syndrome is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the short arm of chromosome 1, characterized by developmental delay, corpus callosum agenesis/hypoplasia and craniofacial dysmorphism, such as macrocephaly (caused by hydrocephalus or ventriculomegaly), low-set ears, anteverted nostrils and micrognathia. Urinary tract defects (e.g. vesicoureteral reflux, urinary incontinence) are also frequently associated. Other reported variable manifestations include hypotonia, tethered spinal cord, Chiari type I malformation and seizures.

1P31P32 MICRODELETION SYNDROME Is also known as monosomy 1p31p32|del(1)(p31p32)

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive


SOURCES: OMIM ORPHANET MENDELIAN

More info about 1P31P32 MICRODELETION SYNDROME

Medium match WOLFRAM SYNDROME 1; WFS1


Wolfram syndrome-1 is a rare and severe autosomal recessive neurodegenerative disease characterized by diabetes mellitus, optic atrophy, diabetes insipidus, and deafness (DIDMOAD). Additional clinical features may include renal abnormalities, ataxia, dementia or mental retardation, and diverse psychiatric illnesses. The minimal diagnostic criteria for Wolfram syndrome are optic atrophy and diabetes mellitus of juvenile onset. Hearing impairment in Wolfram syndrome is typically progressive and mainly affects the higher frequencies, but a small fraction of affected individuals have congenital deafness (summary by Rendtorff et al., 2011).Autosomal dominant mutations in the WFS1 gene have been found to cause low-frequency nonsyndromic deafness (OMIM ) as well as a Wolfram syndrome-like phenotype (OMIM ) in which affected individuals have hearing impairment with diabetes mellitus and/or optic atrophy. Genetic Heterogeneity of Wolfram SyndromeWolfram syndrome-2 (WFS2 ) is caused by mutation in the CISD2 gene (OMIM ) on chromosome 4q24.

WOLFRAM SYNDROME 1; WFS1 Is also known as diabetes insipidus and mellitus with optic atrophy and deafness|wfs|didmoad

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Ataxia
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about WOLFRAM SYNDROME 1; WFS1

Medium match AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 20


Autosomal recessive spastic paraplegia type 20 (SPG20) is a type of complex hereditary spastic paraplegia characterized by an onset in infancy of progressive spastic paraparesis associated with distal amyotrophy, psuedobulbar palsy, motor and cognitive delays, mild cerebellar signs (dysarthria, dysdiadochokinesia, mild intention tremor), short stature and subtle skeletal abnormalities (pes cavus, mild talipes equinovarus, kyphoscoliosis). SPG20 is due to mutations in the SPG20 gene (13q13.1), which encodes the protein spartin.

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 20 Is also known as troyer syndrome|childhood-onset spastic paraparesis-distal muscle wasting syndrome|spastic paraparesis, childhood-onset, with distal muscle wasting|spg20|spastic paraplegia, autosomal recessive, troyer type

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 20

Medium match MONOSOMY 13Q14


Monosomy 13q14 is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the long arm of chromosome 13, characterized by developmental delay, variable degrees of intellectual disability, retinoblastoma and craniofacial dysmorphism (incl. micro/dolichocephaly, high and broad forehead, prominent eyebrows, thick, anteverted ear lobes, short nose with a broad nasal bridge and bulbous tip, prominent philtrum, large mouth with thin upper lip and thick, everted lower lip). Other features reported include high birth weight, macrocephaly, pinealoma, hepatomegaly, inguinal hernia and cryptorchidism.

MONOSOMY 13Q14 Is also known as del(13)(q14)|chromosome 13q deletion syndrome|deletion 13q14

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about MONOSOMY 13Q14

Medium match 3MC SYNDROME 1; 3MC1


The term '3MC syndrome' encompasses 4 rare autosomal recessive disorders that were previously designated the Carnevale, Mingarelli, Malpuech, and Michels syndromes, respectively. The main features of these syndromes are facial dysmorphism that includes hypertelorism, blepharophimosis, blepharoptosis, and highly arched eyebrows, which are present in 70 to 95% of cases. Cleft lip and palate, postnatal growth deficiency, cognitive impairment, and hearing loss are also consistent findings, occurring in 40 to 68% of cases. Craniosynostosis, radioulnar synostosis, and genital and vesicorenal anomalies occur in 20 to 30% of cases. Rare features include anterior chamber defects, cardiac anomalies, caudal appendage, umbilical hernia (omphalocele), and diastasis recti (summary by Rooryck et al., 2011). Genetic Heterogeneity of 3MC SyndromeAlso see 3MC syndrome-2 (3MC2 ), caused by mutation in the COLEC11 gene (OMIM ), and 3MC syndrome-3 (3MC3 ), caused by mutation in the COLEC1 gene (OMIM ).

3MC SYNDROME 1; 3MC1 Is also known as michels syndrome, formerly|oculopalatoskeletal syndrome|craniosynostosis with lid anomalies

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about 3MC SYNDROME 1; 3MC1

Medium match TEMTAMY SYNDROME


Temtamy syndrome is a very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.

TEMTAMY SYNDROME Is also known as temtamy-shalash syndrome|craniofacial dysmorphism-coloboma-corpus callosum agenesis syndrome|mental retardation with or without craniofacial dysmorphism, ocular coloboma, or abnormal corpus callosum

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about TEMTAMY SYNDROME

Medium match KEUTEL SYNDROME


Keutel syndrome is characterised by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism.

KEUTEL SYNDROME Is also known as pulmonic stenosis-brachytelephalangism-calcification of cartilages syndrome|pulmonic stenosis, brachytelephalangism, and calcification of cartilages

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about KEUTEL SYNDROME

Top 5 symptoms//phenotypes associated to Cognitive impairment and Hydronephrosis

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Low-set ears Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Seizures Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Cognitive impairment and Hydronephrosis. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Hypertelorism Ventricular septal defect Dilatation Short stature Hearing impairment Abnormal facial shape Ptosis Cataract Agenesis of corpus callosum Frontal bossing Abnormality of the skeletal system Abnormal heart morphology Micrognathia Cryptorchidism Microcephaly Hypoplasia of the corpus callosum Failure to thrive Growth delay Intellectual disability, mild Downslanted palpebral fissures Iris coloboma Microphthalmia Coloboma Epicanthus Prominent nose Clinodactyly of the 5th finger Brachydactyly Abnormality of the urinary system Atrial septal defect Optic atrophy Patent ductus arteriosus Hernia Vesicoureteral reflux Constipation Hip dislocation Hydrocephalus Spasticity Absent septum pellucidum

Rare Symptoms - Less than 30% cases


Wide nasal bridge Deep philtrum Blindness Long face Wide anterior fontanel Respiratory failure Dental crowding Thin upper lip vermilion Hypogonadism Cutis laxa Decreased testicular size Craniosynostosis Broad forehead Recurrent respiratory infections Facial asymmetry Short nose Neurogenic bladder Highly arched eyebrow Motor delay Anxiety Psychosis Telecanthus Muscular hypotonia Aortic aneurysm High palate Hypertension Pectus excavatum Macrocephaly Micropenis Cerebellar hypoplasia Ventriculomegaly Supernumerary nipple Anteverted nares Hydroureter Thin vermilion border Depressivity Intestinal malrotation Microcornea Short foot Dysarthria Renal hypoplasia Intellectual disability, severe Long philtrum Prominent nasal bridge Gait ataxia Dysphagia Sensorineural hearing impairment Clinodactyly Midface retrusion Diarrhea Wide mouth Intestinal atresia Nystagmus Muscular hypotonia of the trunk Behavioral abnormality Depressed nasal bridge Aplasia/Hypoplasia of the corpus callosum Delayed speech and language development Dolichocephaly Polydactyly Short chin Pigmentary retinopathy Talipes equinovarus Overgrowth Cleft palate Cerebellar vermis atrophy Coronal craniosynostosis Sacral dimple Underdeveloped supraorbital ridges Scleroderma Bilateral cleft lip Broad foot Radioulnar synostosis Growth hormone deficiency Omphalocele Spina bifida Spina bifida occulta Oral cleft Small hand Aplasia/Hypoplasia of the thumb Cleft upper lip Protruding ear Abnormality of the thumb Spastic dysarthria Speech apraxia Upper limb spasticity Bulbous nose Mood swings Overbite Abnormality of the nares Finger syndactyly Abnormality of brain morphology Abnormal hand morphology Upper limb muscle weakness High forehead Knee clonus Abnormality of cardiovascular system morphology Short neck Panic attack Intrauterine growth retardation Hyperplasia of midface Narrow jaw Hyperextensible hand joints Morphea Dysuria Thick eyebrow Abnormality of eye movement Abnormality of the gastrointestinal tract Blepharophimosis Postnatal growth retardation Cleft lip Conductive hearing impairment Umbilical hernia Glaucoma Leukocoria Anteverted ears Retinoblastoma Thickened helices Suicidal ideation Everted lower lip vermilion Trigonocephaly Ankle contracture Patent foramen ovale Abnormal dermatoglyphics Holoprosencephaly Finger clinodactyly Open mouth Hypotelorism Webbed neck Single transverse palmar crease Premature loss of teeth Short 5th finger Esotropia Diastasis recti Pulmonary arterial hypertension Nasal speech Dermal atrophy Growth abnormality Progressive hearing impairment Spontaneous abortion Leukodystrophy Sinusitis Short thumb Short phalanx of finger Recurrent otitis media Sloping forehead Mixed hearing impairment Cerebral calcification Memory impairment Otitis media Underdeveloped nasal alae Asthma Wide nose Short distal phalanx of finger Infertility Pulmonic stenosis Hypotrichosis Emphysema Recurrent sinusitis Carcinoma Abdominal aortic aneurysm Premature fusion of phalangeal epiphyses Cartilaginous ossification of nose Calcification of the auricular cartilage Costal cartilage calcification Soft, doughy skin Tracheal atresia Calcification of cartilage Arterial calcification Pulmonary artery hypoplasia Obstructive lung disease Papillary thyroid carcinoma Epiphyseal stippling Short nail Shortening of all distal phalanges of the fingers Peripheral pulmonary artery stenosis Thyroid carcinoma Chronic obstructive pulmonary disease Recurrent bronchitis Short hallux Chronic sinusitis Pulmonary artery stenosis Irregular vertebral endplates Respiratory tract infection Macrotia Bilateral cleft lip and palate Myopia Spastic diplegia Joint hyperflexibility Corneal opacity Mental deterioration Intellectual disability, moderate Pes planus Coarse facial features Autism Absent speech Congestive heart failure Visual impairment Convex nasal ridge Abnormality of the occipital bone Single interphalangeal crease of fifth finger Skull asymmetry Caudal appendage Cranial asymmetry Epicanthus inversus Abnormal anterior chamber morphology Lambdoidal craniosynostosis Conjunctival telangiectasia Bilateral conductive hearing impairment Renal agenesis Progressive visual loss Osteoporosis Hypoplasia of teeth Alopecia Malar flattening Posterior staphyloma Short 2nd toe Scleral staphyloma Lop ear Lens luxation Short upper lip Colpocephaly Profound global developmental delay Congenital nystagmus Bilateral sensorineural hearing impairment Bowing of the legs Unilateral renal agenesis Chorioretinal coloboma Relative macrocephaly Genu varum Abnormal palate morphology Aortic regurgitation Short toe Thick lower lip vermilion Intellectual disability, profound Ankle clonus Diffuse leukoencephalopathy Hammertoe Vertebral segmentation defect Miosis Volvulus Abnormality of the uterus 11 pairs of ribs Aplasia/Hypoplasia of the lungs Xerostomia Abnormality of the ureter Decreased fertility Bilateral cryptorchidism Urethral stenosis Multicystic kidney dysplasia Hemivertebrae Congenital hip dislocation Telangiectasia Recurrent urinary tract infections Epistaxis Abnormality of the ribs Oligohydramnios Tetralogy of Fallot Urogenital sinus anomaly Cervical ribs Abdominal distention Inguinal hernia Polymicrogyria Attention deficit hyperactivity disorder Retinopathy Jaundice Narrow mouth Hyperactivity Upslanted palpebral fissure Prominent forehead Hypertonia Abdominal wall defect Aplasia of the musculature Aplasia of the abdominal wall musculature Dilatation of the bladder Congenital posterior urethral valve Fetal ascites Urethral obstruction Megacystis Abnormality of the bladder Prune belly Abnormality of the skin Ascites Hip dysplasia Congenital muscular dystrophy Optic nerve dysplasia Renal cortical cysts Type II lissencephaly Retinal dysplasia Anencephaly Occipital encephalocele Cortical dysplasia Hypoplasia of the brainstem Lissencephaly Deeply set eye Severe muscular hypotonia Opacification of the corneal stroma Renal dysplasia Heterotopia Encephalocele Dandy-Walker malformation Renal cyst Muscular dystrophy Elevated serum creatine phosphokinase Myopathy Abnormality of the pinna Anal atresia Peters anomaly Pectus carinatum Renal insufficiency Scoliosis Corneal astigmatism Jejunal atresia Hypoplastic iris stroma Bilateral renal hypoplasia Retinal vascular tortuosity Accessory spleen Sex reversal Malabsorption Ectopia pupillae Duodenal atresia Sclerocornea Short columella Preaxial polydactyly Optic nerve hypoplasia Short palpebral fissure Cerebellar vermis hypoplasia Astigmatism Urinary incontinence Sparse eyebrow Impaired vibratory sensation Flexion contracture Camptodactyly Difficulty walking Kyphoscoliosis Pes cavus Babinski sign Cerebellar atrophy Skeletal muscle atrophy Hyperreflexia Muscle weakness Abnormality of the foot Limited mobility of proximal interphalangeal joint Impaired collagen-induced platelet aggregation Central sleep apnea Gastric ulcer Abnormal glucose tolerance Sideroblastic anemia Pollakisuria Respiratory arrest Central diabetes insipidus Spastic paraplegia Genu valgum Testicular atrophy Progressive muscle weakness Emotional lability Abnormality of the hand Slurred speech Drooling Spastic paraparesis Hoarse voice Clonus Spastic gait Hallucinations Lower limb spasticity Paraplegia Choreoathetosis Specific learning disability Gliosis Abnormal cerebellum morphology Sleep disturbance Distal amyotrophy Joint hypermobility Dysmetria Lower limb muscle weakness Histiocytosis Stroke-like episode Overfolded helix Craniofacial asymmetry Thrombocytopenia Cerebral atrophy Cardiomyopathy Fatigue Tremor Peripheral neuropathy Ataxia Partial absence of the septum pellucidum Intraventricular hemorrhage Myoclonus Ureterocele Metopic synostosis Broad face Arachnoid cyst Narrow nose Arnold-Chiari type I malformation Syringomyelia Cutis marmorata Obsessive-compulsive behavior Dementia Diabetes mellitus Central apnea Leukoencephalopathy Megaloblastic anemia Dyschromatopsia Severe sensorineural hearing impairment Atrophy/Degeneration affecting the brainstem Polyphagia Blurred vision Diabetes insipidus Anosmia Sleep apnea Type I diabetes mellitus Weight loss Hypergonadotropic hypogonadism Dehydration Abnormal bleeding Neurodegeneration Apnea Aggressive behavior Abnormality of the nervous system Rigidity Hypothyroidism Cartilaginous ossification of larynx



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Abnormality of the skeletal system and Postaxial hand polydactyly, related diseases and genetic alterations Myopia and Short neck, related diseases and genetic alterations Fever and Muscular dystrophy, related diseases and genetic alterations Hyperreflexia and Cutaneous photosensitivity, related diseases and genetic alterations

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