Cognitive impairment, and Renal hypoplasia

Diseases related with Cognitive impairment and Renal hypoplasia

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


Top matches:

Medium 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

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

Low match ALAGILLE SYNDROME DUE TO A NOTCH2 POINT MUTATION


ALAGILLE SYNDROME DUE TO A NOTCH2 POINT MUTATION Is also known as syndromic bile duct paucity due to a notch2 point mutation|arteriohepatic dysplasia due to a notch2 point mutation|alagille-watson syndrome due to a notch2 point mutation

Related symptoms:

  • Hypertelorism
  • Failure to thrive
  • Cognitive impairment
  • Hypertension
  • Hepatomegaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about ALAGILLE SYNDROME DUE TO A NOTCH2 POINT MUTATION

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Other less relevant matches:

Low 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

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 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM TYPES I AND III


Microcephalic osteodysplastic primordial dwarfism (MOPD) types 1 and 3 are characterized by intrauterine and postnatal growth retardation, microcephaly, facial dysmorphism, skeletal dysplasia, low-birth weight and brain anomalies. Although MOPD types 1 and 3 were originally described as two separate entities on the basis of radiological criteria (notably small differences in pelvic and long bone structure), later reports confirmed that the two forms represent different modes of expression of the same syndrome.

MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM TYPES I AND III Is also known as microcephalic osteodysplastic primordial dwarfism, taybi-linder type|low-birth-weight dwarfism with skeletal dysplasia|mopd i|mopd types i and iii|osteodysplastic primordial dwarfism, type i|primordial microcephalic dwarfism, crachami type|mopd|cephaloske

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM TYPES I AND III

Low match FOCAL DERMAL HYPOPLASIA


Goltz syndrome or focal dermal hypoplasia is characterized by a polymorphic cutaneous disorder and highly variable anomalies affecting the eyes, teeth, skeleton and the central nervous, urinary, gastrointestinal and cardiovascular systems.

FOCAL DERMAL HYPOPLASIA Is also known as dhof|goltz syndrome|goltz-gorlin syndrome|fodh

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about FOCAL DERMAL HYPOPLASIA

Low 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 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

Low match NEUROCUTANEOUS MELANOCYTOSIS


Neurocutaneous melanocytosis (NCM) is a rare congenital neurological disorder characterized by abnormal aggregations of nevomelanocytes within the central nervous system (leptomeningeal melanocytosis) associated with large or giant congenital melanocytic nevi (CMN; see this term). NCM can be asymptomatic or present as variably severe and progressive neurological impairment, sometimes resulting in death.

NEUROCUTANEOUS MELANOCYTOSIS Is also known as neurocutaneous melanosis|neuromelanosis|ncm

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about NEUROCUTANEOUS MELANOCYTOSIS

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

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

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

Uncommon Symptoms - Between 30% and 50% cases


Hypogonadism Agenesis of corpus callosum Cryptorchidism Cleft palate Abnormality of the skeletal system Microcephaly Hydrocephalus Hydronephrosis Ventricular septal defect Obesity Abnormality of the pinna Retinopathy Seizures Abnormal facial shape Pigmentary retinopathy Renal cyst Long nose Inguinal hernia Ventriculomegaly Hypoplasia of the corpus callosum Hernia Failure to thrive Facial asymmetry Short chin Arachnoid cyst Short stature Growth delay Neoplasm Sensorineural hearing impairment Intrauterine growth retardation Renal hypoplasia/aplasia Sparse hair Hypertension Generalized hypotonia Micrognathia Atrial septal defect Hypertelorism

Rare Symptoms - Less than 30% cases


Intestinal malrotation Hypertonia Ptosis Anteverted nares Papilloma Arnold-Chiari malformation Downslanted palpebral fissures Clinodactyly High palate Cleft upper lip Microphthalmia Cerebellar hypoplasia Severe short stature Micropenis Hypothyroidism Short neck Rigidity Postnatal growth retardation Cardiomyopathy Brachydactyly Deeply set eye Small for gestational age Alopecia Short metacarpal Cataract Nystagmus Abnormality of the nervous system Spina bifida Abnormality of the kidney External genital hypoplasia Ataxia Microtia Syringomyelia Corneal opacity Postaxial polydactyly Retinal degeneration Pointed chin Hypotrichosis Abnormality of the urinary system Strabismus Dilated cardiomyopathy Overgrowth Polymicrogyria Rod-cone dystrophy Attention deficit hyperactivity disorder Prominent nose Conductive hearing impairment Rickets Cleft lip Increased body weight Malabsorption Abnormality of the liver Broad nasal tip Jaundice Mandibular prognathia Renal dysplasia Patent ductus arteriosus Renal insufficiency Renal agenesis Iris coloboma Abnormal cardiac septum morphology Limb undergrowth Scoliosis Sloping forehead Cortical gyral simplification Vertebral fusion Duodenal atresia Preaxial polydactyly Cerebellar vermis hypoplasia Scarring Abnormal heart morphology Postaxial hand polydactyly Abnormality of cardiovascular system morphology Coarctation of aorta Tetralogy of Fallot Prominent nasal bridge Triangular face Coloboma Chorioretinal coloboma Spasticity Pruritus Broad forehead Oligodontia Short finger Hand polydactyly Telangiectasia of the skin Abnormality of digit Abnormality of dental morphology Aplasia/Hypoplasia of the skin Narrow nasal bridge Reduced number of teeth Aplastic clavicle Colitis Brittle hair Macule Mixed hearing impairment Ectopia lentis Hypermelanotic macule Stridor Supernumerary nipple Congenital hip dislocation Horseshoe kidney Multicystic kidney dysplasia Abnormality of dental enamel Anophthalmia Open bite Mild short stature Spina bifida occulta Ectropion Dermal atrophy Short metatarsal Recurrent skin infections Congenital diaphragmatic hernia Abnormality of the nail Optic atrophy Umbilical hernia Gastroesophageal reflux Hypoplasia of the frontal lobes Reduced visual acuity Weight loss Abdominal pain Hyperhidrosis Syndactyly Abnormality of the dentition Blindness Dysphagia Small anterior fontanelle Aplasia/hypoplasia of the femur Camptodactyly Bifid first metacarpal Cleft vertebral arch Absent knee epiphyses Enlarged metaphyses Bowed humerus Bifid femur Abnormality of the tragus Shoulder flexion contracture Abnormality of the pubic bone Abnormality of the distal phalanx of finger Loss of eyelashes Abnormality of calcium-phosphate metabolism Large iliac wings Joint laxity Erythema Short ribs Nail dysplasia Hoarse voice Short phalanx of finger Abnormality of epiphysis morphology Telangiectasia Hypoplasia of dental enamel Subcutaneous nodule Long clavicles Omphalocele Thin skin Split hand Interphalangeal joint contracture of finger Central hypothyroidism Abnormality of the skin Dental malocclusion Camptodactyly of finger Ectodermal dysplasia Abnormally ossified vertebrae Hypodontia Delayed eruption of teeth Abnormality of skin pigmentation Abnormality of the intervertebral disk Hypoplastic nipples Abnormality of the foot Toe syndactyly Nail dystrophy Papule Finger syndactyly Cough Anteriorly placed anus Absent fingernail Aplasia cutis congenita Abnormality of the ribs Congenital muscular torticollis Abnormal sacrum morphology Abnormality of the shoulder Short sternum Fused cervical vertebrae Ectopic anus Abnormal cranial nerve morphology Sprengel anomaly Abnormality of the vertebral column Hemiplegia/hemiparesis Low posterior hairline Wide intermamillary distance Cervical C2/C3 vertebral fusion Webbed neck Flat face Anal atresia Bronchiolitis Tricuspid regurgitation Recurrent otitis media Asthma Hepatic steatosis Stage 5 chronic kidney disease Respiratory tract infection Recurrent respiratory infections Respiratory distress Aplasia of the ulna Abnormal vertebral segmentation and fusion Midclavicular hypoplasia Increased intracranial pressure Choroid plexus papilloma Astrocytoma Meningioma Spinal cord compression Meningocele Generalized hyperpigmentation Abnormality of neuronal migration Aplasia/Hypoplasia of the cerebellum Melanocytic nevus Intracranial hemorrhage Encephalitis Melanoma Decreased cervical spine mobility Venous thrombosis Cranial nerve paralysis Generalized hirsutism Abnormality of retinal pigmentation Thickened skin Hemiparesis Dandy-Walker malformation Nevus Mental deterioration EEG abnormality Behavioral abnormality Limited neck range of motion Midclavicular aplasia Giant cell tumor of bone Facial cleft Acute hepatic failure Bifid nose Skin nodule Anomalous pulmonary venous return Hypoplasia of teeth Cholangitis Labial hypoplasia Abnormality of the larynx Verrucae Ulcerative colitis Lower limb asymmetry Hypoplastic pelvis Diastasis recti Hand oligodactyly Truncus arteriosus Myelomeningocele Stenosis of the external auditory canal Aplasia/Hypoplasia of the lungs Hiatus hernia Split foot Hypoplasia of the iris Foot polydactyly Aniridia Short clavicles Oligodactyly Ectrodactyly Ureteral duplication Abnormal cornea morphology Apocrine hidrocystoma Caudal appendage Cholesteatoma Linear hyperpigmentation Ectopia cordis Bifid ureter Abnormal adipose tissue morphology Abnormality of the pulmonary vasculature Nonproductive cough Osteopathia striata Cleft ala nasi Abnormality of the mediastinum Abnormal palmar dermatoglyphics Ridged fingernail Abnormality of hair texture Absence of the sacrum Patchy alopecia Upper limb asymmetry Reticular hyperpigmentation Broad distal phalanx of finger Foot oligodactyly Abnormality of the middle ear Rough bone trabeculation Absent toenail Clitoral hypoplasia Inspiratory stridor Total anomalous pulmonary venous return Tethered cord Single transverse palmar crease Abnormality of the upper urinary tract Narrow nose Dysarthria Peripheral neuropathy Delayed speech and language development Anemia Partial absence of the septum pellucidum Craniofacial asymmetry Intraventricular hemorrhage Ureterocele Metopic synostosis Broad face Arnold-Chiari type I malformation Gait disturbance Absent septum pellucidum Cutis marmorata Obsessive-compulsive behavior Overfolded helix Sparse eyebrow Aplasia/Hypoplasia of the corpus callosum Hip dysplasia Urinary incontinence Vesicoureteral reflux Thin vermilion border Craniosynostosis Tremor Long philtrum Narrow mouth Long face Cutaneous photosensitivity Epidermal acanthosis Apraxia Hypotelorism Bradykinesia Decreased testicular size Convex nasal ridge Progressive cerebellar ataxia Polyneuropathy Sensory neuropathy Falls Dysmetria Immunodeficiency Synophrys Hypermetropia Short philtrum Abnormal pyramidal sign High forehead Diabetes mellitus Pes cavus Babinski sign Thrombocytopenia Midface retrusion Recurrent infections Thin upper lip vermilion Hyperactivity Abnormal lung morphology Ectopia pupillae Splenomegaly Hepatomegaly Corneal astigmatism Jejunal atresia Hypoplastic iris stroma Bilateral renal hypoplasia Retinal vascular tortuosity Accessory spleen Intestinal atresia Peters anomaly Sex reversal Sclerocornea Proteinuria Short columella Optic nerve hypoplasia Short palpebral fissure Microcornea Astigmatism Wide mouth Myopathy Wide nasal bridge Unilateral renal hypoplasia Secundum atrial septal defect Bicuspid aortic valve Acidosis Stroke Upslanted palpebral fissure Cholestatic liver disease Prominent forehead Dilatation Short nose Frontal bossing Macrocephaly Motor delay Muscular hypotonia Axenfeld anomaly Dark urine Butterfly vertebrae Peripheral pulmonary artery stenosis Wolff-Parkinson-White syndrome Pulmonic stenosis Pulmonary artery stenosis Poor coordination Exocrine pancreatic insufficiency Posterior embryotoxon Renal tubular acidosis Heart murmur Cholestasis Cyanosis Hematuria Hepatic failure Cirrhosis Broad-based gait Insulin resistance Thin eyebrow Sparse and thin eyebrow Elbow dislocation Abnormality of the metacarpal bones Sacral dimple Lissencephaly Sparse eyelashes Absence seizures Knee flexion contracture Muscle stiffness Bilateral single transverse palmar creases Elbow flexion contracture Short thumb Diabetes insipidus Bowing of the long bones Heterotopia Pachygyria Abnormality of the metaphysis Abnormal form of the vertebral bodies Sparse scalp hair Fine hair Status epilepticus Hypsarrhythmia Oligohydramnios Specific learning disability Large hands Multiple joint contractures Delayed myelination Thickened nuchal skin fold Colpocephaly Profound global developmental delay Agenesis of cerebellar vermis 11 pairs of ribs Abnormal cortical gyration Hypoplastic ilia Short femur Long foot Flat acetabular roof Abnormality of finger Delayed epiphyseal ossification Severe intrauterine growth retardation Hydroureter Epileptic spasms Submucous cleft hard palate Hip contracture Short humerus Osteomalacia Broad palm Disproportionate short stature Prolonged neonatal jaundice Partial agenesis of the corpus callosum Femoral bowing Prominent occiput Premature birth Bifid uvula Lymphopenia Ectopic kidney Gastrointestinal stroma tumor Multinodular goiter Glioma Chronic lung disease Shuffling gait Misalignment of teeth Low hanging columella Increased circulating gonadotropin level Abnormality of lipid metabolism Cerebellar vermis atrophy Truncal obesity High pitched voice Flexion contracture Sensory axonal neuropathy Bilateral cryptorchidism Unilateral renal agenesis Postural tremor Dysdiadochokinesis Slurred speech Goiter Leukopenia Acanthosis nigricans Bone marrow hypocellularity Hypergonadotropic hypogonadism Long neck Depressed nasal bridge Thick vermilion border Osteopenia Short palm Bulbous nose Dry skin Micromelia Platyspondyly Dolichocephaly Hip dislocation Apnea Muscular hypotonia of the trunk Skeletal dysplasia Retrognathia Dyspnea Fever Proptosis Hyperkeratosis Respiratory failure Glaucoma Osteoporosis Posteriorly rotated ears Clinodactyly of the 5th finger Delayed skeletal maturation Cerebral atrophy Malar flattening Respiratory insufficiency Numerous congenital melanocytic nevi



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