Cognitive impairment, and Renal agenesis

Diseases related with Cognitive impairment and Renal agenesis

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


Top matches:

Medium match BARDET-BIEDL SYNDROME 16; BBS16


BBS16 is an autosomal recessive ciliopathy characterized by retinal degeneration, obesity, renal disease, and cognitive impairment. Although polydactyly is considered a primary feature of BBS overall, it has not been reported in any BBS16 patient (Billingsley et al., 2012).For a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about BARDET-BIEDL SYNDROME 16; BBS16

Low match 3MC SYNDROME 3; 3MC3


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).For a discussion of genetic heterogeneity of 3MC syndrome, see 3MC1 (OMIM ).

3MC SYNDROME 3; 3MC3 Is also known as malpuech facial clefting syndrome, formerly|facial clefting syndrome, gypsy type

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about 3MC SYNDROME 3; 3MC3

Low 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

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Other less relevant matches:

Low match PROXIMAL 16P11.2 MICRODELETION SYNDROME


The proximal 16p11.2 microdeletion syndrome is a chromosomal anomaly characterized by developmental and language delays, mild intellectual disability, social impairments (autism spectrum disorders), mild variable dysmorphism and predisposition to obesity.

PROXIMAL 16P11.2 MICRODELETION SYNDROME Is also known as proximal del(16)(p11.2)|proximal monosomy 16p11.2

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about PROXIMAL 16P11.2 MICRODELETION SYNDROME

Low match SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION; SSMED


In patients with SSMED, short stature and microcephaly are apparent at birth, and there is progressive postnatal growth failure. Endocrine dysfunction, including hypergonadotropic hypogonadism, multinodular goiter, and diabetes mellitus, is present in affected adults. Progressive ataxia has been reported in some patients, with onset ranging from the second to fifth decade of life. In addition, a few patients have developed tumors, suggesting that there may be a predisposition to tumorigenesis. In contrast to syndromes involving defects in other components of the nonhomologous end-joining (NHEJ) complex (see, e.g., {606593}), no clinically overt immunodeficiency has been observed in SSMED, although laboratory analysis has revealed lymphopenia or borderline leukopenia in some patients (Murray et al., 2015; Bee et al., 2015; de Bruin et al., 2015; Guo et al., 2015).

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION; SSMED

Low match ICHTHYOSIS FOLLICULARIS-ALOPECIA-PHOTOPHOBIA SYNDROME


Ichthyosis follicularis - alopecia - photophobia (IFAP) is a rare genetic disorder characterized by the triad of ichthyosis follicularis, alopecia, and photophobia from birth.

ICHTHYOSIS FOLLICULARIS-ALOPECIA-PHOTOPHOBIA SYNDROME Is also known as ichthyosis follicularis-atrichia-photophobia syndrome|ifap syndrome|ichthyosis follicularis, atrichia, and photophobia with or without brain anomalies, retardation, ectodermal dysplasia, skeletal malformations, hirschsprung disease, ear/eye anomalies, cle

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about ICHTHYOSIS FOLLICULARIS-ALOPECIA-PHOTOPHOBIA SYNDROME

Low match VELOCARDIOFACIAL SYNDROME


VELOCARDIOFACIAL SYNDROME Is also known as chromosome 22q11.2 deletion syndrome|shprintzen vcf syndrome|vcf syndrome|vcfs

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about VELOCARDIOFACIAL SYNDROME

Low match DIGEORGE SYNDROME; DGS


DiGeorge syndrome (DGS) comprises hypocalcemia arising from parathyroid hypoplasia, thymic hypoplasia, and outflow tract defects of the heart. Disturbance of cervical neural crest migration into the derivatives of the pharyngeal arches and pouches can account for the phenotype. Most cases result from a deletion of chromosome 22q11.2 (the DiGeorge syndrome chromosome region, or DGCR). Several genes are lost including the putative transcription factor TUPLE1 which is expressed in the appropriate distribution. This deletion may present with a variety of phenotypes: Shprintzen, or velocardiofacial, syndrome (VCFS ); conotruncal anomaly face (or Takao syndrome); and isolated outflow tract defects of the heart including tetralogy of Fallot, truncus arteriosus, and interrupted aortic arch. A collective acronym CATCH22 has been proposed for these differing presentations. A small number of cases of DGS have defects in other chromosomes, notably 10p13 (see {601362}). In the mouse, a transgenic Hox A3 (Hox 1.5) knockout produces a phenotype similar to DGS as do the teratogens retinoic acid and alcohol.

DIGEORGE SYNDROME; DGS Is also known as hypoplasia of thymus and parathyroids|chromosome 22q11.2 deletion syndrome|third and fourth pharyngeal pouch syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about DIGEORGE SYNDROME; DGS

Low match BARDET-BIEDL SYNDROME 2; BBS2


BBS2 is an autosomal recessive ciliopathy characterized by retinal degeneration, polydactyly, renal disease, hypogonadism, obesity, dysmorphic features, and variable degrees of cognitive impairment (Innes et al., 2010). Mutation in the BBS2 gene is the third most frequent cause of BBS, accounting for approximately 8% of cases (Zaghloul and Katsanis, 2009).For a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Cognitive impairment
  • Cardiomyopathy
  • Atrial septal defect


SOURCES: OMIM MENDELIAN

More info about BARDET-BIEDL SYNDROME 2; BBS2

Low match ISOLATED KLIPPEL-FEIL SYNDROME


Klippel-Feil Syndrome is characterised by improper segmentation of cervical segments resulting in congenitally fused cervical vertebrae.

ISOLATED KLIPPEL-FEIL SYNDROME Is also known as congenital cervical vertebral fusion|klippel-feil sequence|congenital fused cervical segments|klippel-feil malformation|cervical vertebral fusion, autosomal recessive|kfs, autosomal recessive

Related symptoms:

  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Sensorineural hearing impairment
  • Cleft palate


SOURCES: OMIM ORPHANET MENDELIAN

More info about ISOLATED KLIPPEL-FEIL SYNDROME

Top 5 symptoms//phenotypes associated to Cognitive impairment and Renal agenesis

Symptoms // Phenotype % cases
Global developmental delay Very Common - Between 80% and 100% cases
Intellectual disability Common - Between 50% and 80% cases
Hearing impairment Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Cleft palate Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Obesity

Uncommon Symptoms - Between 30% and 50% cases


Scoliosis

Common Symptoms - More than 50% cases


Unilateral renal agenesis

Uncommon Symptoms - Between 30% and 50% cases


Immunodeficiency Hypertelorism Seizures Microcephaly Low-set ears Ventricular septal defect Hernia Inguinal hernia Abnormality of the pinna Atrial septal defect Hypoplasia of the corpus callosum Recurrent infections Abnormal facial shape Polydactyly Ptosis Abnormal heart morphology Patent ductus arteriosus Renal dysplasia Microphthalmia Delayed speech and language development Conductive hearing impairment Abnormality of the kidney Short neck Umbilical hernia Cryptorchidism Blepharophimosis Micrognathia Ventriculomegaly Growth delay Hydronephrosis Intellectual disability, severe Psoriasiform dermatitis Specific learning disability Myopia Cataract Sensorineural hearing impairment Dilatation Postaxial polydactyly Posteriorly rotated ears Mental deterioration High palate Muscular hypotonia Intrauterine growth retardation Abnormality of cardiovascular system morphology Behavioral abnormality Hypothyroidism Thrombocytopenia Low posterior hairline Anemia Spina bifida Bicuspid aortic valve Attention deficit hyperactivity disorder Nystagmus Strabismus Congestive heart failure Talipes Micropenis Hypogonadism Generalized hypotonia Cleft lip Telecanthus

Rare Symptoms - Less than 30% cases


External genital hypoplasia Hypoparathyroidism Vitiligo Midface retrusion Macrotia Hyperactivity Bipolar affective disorder Posterior embryotoxon Deeply set eye Autoimmune thrombocytopenia Autoimmune hemolytic anemia Dysdiadochokinesis Psychosis Meningocele Seborrheic dermatitis Impaired T cell function Right aortic arch Perimembranous ventricular septal defect Interrupted aortic arch Retrognathia Aplasia of the uterus Juvenile rheumatoid arthritis Underdeveloped nasal alae Myelomeningocele Clinodactyly Abnormality of the ribs Depressivity Feeding difficulties Hypospadias Truncus arteriosus Flat face Hemivertebrae Retinal vascular tortuosity Hemolytic anemia Cardiomyopathy Retinal degeneration Chorea Severe short stature Bifid uvula Fever Bulbous nose Tetralogy of Fallot Anal atresia Hydrocephalus Autoimmunity Short philtrum Respiratory tract infection Dysmetria Dilated cardiomyopathy Amenorrhea Neoplasm Narrow palpebral fissure Long nose Rod-cone dystrophy Inflammation of the large intestine Renal hypoplasia Acne Epidermal acanthosis Rheumatoid arthritis Cholelithiasis Primary amenorrhea Nasal speech Schizophrenia Arnold-Chiari malformation Purpura Hypocalcemia Pulmonary artery atresia Renal cyst Duodenal stenosis Graves disease Arthritis Intellectual disability, mild Coloboma Astigmatism Submucous cleft hard palate Highly arched eyebrow Autism Agenesis of corpus callosum Abnormality of the hand Absent speech Intellectual disability, moderate Long philtrum Postnatal growth retardation Multicystic kidney dysplasia Craniosynostosis Cleft upper lip Flexion contracture Recurrent respiratory infections Frontal bossing Abnormality of the vertebral column Macrocephaly Dementia Omphalocele Congenital diaphragmatic hernia Corneal opacity Small hand Aplasia of the thymus Hip dislocation Postaxial hand polydactyly Bifid scrotum Short toe Respiratory distress Short chin Iris coloboma Convex nasal ridge Long face Right aortic arch with mirror image branching Arteria lusoria Facial asymmetry Aortic regurgitation Sacral meningocele Conotruncal defect Scleritis Abnormality of the nail Erythroderma Thin fingernail Aganglionic megacolon Hypoplasia of the bladder Cerebral cortical hemiatrophy Intestinal obstruction Abnormal pelvis bone morphology Hypoplasia of dental enamel Scaling skin Urticaria Hypohidrosis Ichthyosis follicularis Cerebellar atrophy Abnormal vertebral morphology Abnormality of the hair Unilateral chest hypoplasia Decreased cervical spine mobility Plagiocephaly Opacification of the corneal stroma Conjunctivitis Recurrent bacterial infections Abnormality of dental enamel Abnormal eyelid morphology Keratitis Alopecia universalis Follicular hyperkeratosis Absent eyelashes Heat intolerance Hypoplastic fingernail Abnormal eyelash morphology Blepharitis Alopecia of scalp Recurrent corneal erosions Olivopontocerebellar atrophy Parakeratosis Alopecia totalis Thin eyebrow Uveitis Oxycephaly Oligodactyly Absent eyebrow Hyperconvex fingernails Hydroureter Paronychia Mixed hearing impairment Absent septum pellucidum Congenital ichthyosiform erythroderma Episcleritis Corneal erosion Cheilitis Abnormal nasolacrimal system morphology Subcortical cerebral atrophy Corneal scarring Atonic seizures Abnormality of the upper urinary tract Ectrodactyly Abnormality of temperature regulation Vertebral fusion Anxiety High, narrow palate Sclerocornea Exotropia Amblyopia Broad thumb Short palpebral fissure Coarctation of aorta Sprengel anomaly Polymicrogyria Anterior segment developmental abnormality Generalized tonic-clonic seizures Microtia Narrow mouth Hypertonia Unilateral primary pulmonary dysgenesis Unilateral lung agenesis Abnormal cranial nerve morphology Tetany Hypoplasia of the thymus Perineal fistula Parathyroid hypoplasia Renal hypoplasia/aplasia Wide intermamillary distance Webbed neck Unilateral renal hypoplasia Secundum atrial septal defect Type I truncus arteriosus Parathyroid agenesis Decreased circulating parathyroid hormone level Femoral hernia Accommodative esotropia Esophoria Vascular tortuosity Abnormality of the thymus Abnormality of the middle ear Perisylvian polymicrogyria Alcoholism Congenital conductive hearing impairment Vascular ring Aggressive behavior Hallucinations Abnormality of the ear Myopathic facies Hypoplasia of the brainstem Obsessive-compulsive behavior Apathy Congenital muscular torticollis Holoprosencephaly Open mouth Basal ganglia calcification Aplasia of the ulna Cervical C2/C3 vertebral fusion Peripheral demyelination Vesicoureteral reflux Abnormal vertebral segmentation and fusion Pulmonic stenosis Congenital cataract Hemiplegia/hemiparesis Axonal loss Central nervous system degeneration Echolalia Psychotic episodes Velopharyngeal insufficiency Giant platelets Paranoia Mood swings Platybasia Abnormality of the endocrine system Pierre-Robin sequence Abnormal sacrum morphology Delusions Ectopic anus Hearing abnormality Fused cervical vertebrae Short sternum Abnormality of the shoulder Anal stenosis Choanal atresia Cutaneous photosensitivity Oligohydramnios Aplasia/Hypoplasia of the corpus callosum Profound global developmental delay Hypoplasia of teeth Neurogenic bladder Congenital nystagmus Bowing of the legs Chorioretinal coloboma Aortic aneurysm Relative macrocephaly Genu varum Abnormal palate morphology Short upper lip Dental crowding Thick lower lip vermilion Intellectual disability, profound Bilateral sensorineural hearing impairment Progressive visual loss Esotropia Prominent nose Microcornea Joint hyperflexibility Colpocephaly Lens luxation Pes planus EEG abnormality Bilateral ptosis Pyloric stenosis Microretrognathia Pointed chin Tapered finger Smooth philtrum Broad forehead Wide mouth Autistic behavior Gastroesophageal reflux Lop ear Malar flattening Short nose Respiratory insufficiency Anteverted nares Wide nasal bridge Hypertension Motor delay Posterior staphyloma Short 2nd toe Scleral staphyloma Dolichocephaly Coarse facial features Language impairment Muscular hypotonia of the trunk Elbow dislocation Epiphyseal dysplasia Radioulnar synostosis Preaxial polydactyly Abnormality of the genitourinary system Scrotal hypoplasia Spontaneous abortion Wormian bones Oral cleft Edema Facial cleft Epicanthus Bronchiolitis Tricuspid regurgitation Recurrent otitis media Asthma Hepatic steatosis Stage 5 chronic kidney disease Abnormality of the liver Renal insufficiency Supernumerary nipple Shawl scrotum Gait ataxia Prominent coccyx Clinodactyly of the 5th finger Talipes equinovarus Abnormality of the skeletal system Downslanted palpebral fissures Optic atrophy Brachydactyly Depressed nasal bridge Visual impairment Spasticity Urethral valve Irregular vertebral endplates Caudal appendage Penoscrotal hypospadias Epicanthus inversus Skin dimples Bilateral conductive hearing impairment Bilateral cleft lip and palate Diastasis recti Short 5th finger Bilateral cleft lip Broad foot Hand polydactyly Anophthalmia Eczema Abnormality of lipid metabolism Long neck Gastrointestinal stroma tumor Multinodular goiter Glioma Chronic lung disease Shuffling gait Misalignment of teeth Low hanging columella Increased circulating gonadotropin level Cerebellar vermis atrophy Kyphosis Truncal obesity Cortical gyral simplification Ectopic kidney High pitched voice Sensory axonal neuropathy Bilateral cryptorchidism Postural tremor Slurred speech Goiter Failure to thrive Delayed skeletal maturation Acanthosis nigricans Nail dystrophy Nail dysplasia Ectodermal dysplasia Brain atrophy Palmoplantar keratoderma Pulmonary hypoplasia Ichthyosis Dry skin Hypotrichosis Platyspondyly Papule Alopecia Camptodactyly of finger Scarring Erythema Developmental regression Camptodactyly Photophobia Hyperkeratosis Cerebral cortical atrophy Hyperhidrosis Cerebellar hypoplasia Leukopenia Bone marrow hypocellularity Combined immunodeficiency Ataxia High forehead Mandibular prognathia Diabetes mellitus Pes cavus Babinski sign Gait disturbance Tremor Dysarthria Peripheral neuropathy Absent nasal bridge Sparse hair Widely-spaced maxillary central incisors Chorioretinitis Optic nerve coloboma Hydrocele testis Missing ribs Multiple renal cysts Severe intrauterine growth retardation Arnold-Chiari type I malformation Severe combined immunodeficiency Syringomyelia Rigidity Retinopathy Hypergonadotropic hypogonadism Limb undergrowth Lymphopenia Insulin resistance Abnormal lung morphology Broad-based gait Apraxia Hypotelorism Sloping forehead Bradykinesia Pigmentary retinopathy Decreased testicular size Abnormal pyramidal sign Progressive cerebellar ataxia Broad nasal tip Triangular face Polyneuropathy Sensory neuropathy Falls Synophrys Hypermetropia Small for gestational age Prominent nasal bridge Limited neck range of motion



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