Intellectual disability, severe, and Renal hypoplasia

Diseases related with Intellectual disability, severe and Renal hypoplasia

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

Top matches:

High match BRESEK SYNDROME

X-linked mental retardation, Reish type is characterised by Brain anomalies, severe mental Retardation, Ectodermal dysplasia, Skeletal deformities (vertebral anomalies, scoliosis, polydactyly), Ear/eye anomalies (maldevelopment, small optic nerves, low set and large ears with hearing loss) and Kidney dysplasia/hypoplasia (giving the acronym BRESEK syndrome).

BRESEK SYNDROME Is also known as bresheck syndrome

Related symptoms:

  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Scoliosis
  • Growth delay


SOURCES: MESH ORPHANET MENDELIAN

More info about BRESEK SYNDROME

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

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 2; MSSGM2

Other less relevant matches:

Marden-Walker syndrome (MWS) is a malformation syndrome characterized by multiple joint contractures (arthrogryposis), a mask-like face with blepharophimosis, micrognathia, high-arched or cleft palate, low-set ears, decreased muscular bulk, kyphoscoliosis and arachnodactyly.

MARDEN-WALKER SYNDROME Is also known as mws

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about MARDEN-WALKER SYNDROME

The term 'X-linked mental retardation-hypotonic facies syndrome' comprises several syndromes previously reported separately. These include Juberg-Marsidi, Carpenter-Waziri, Holmes-Gang, and Smith-Fineman-Myers syndromes as well as 1 family with X-linked mental retardation with spastic paraplegia. All these syndromes were found to be caused by mutation in the XH2 gene and are characterized primarily by severe mental retardation, dysmorphic facies, and a highly skewed X-inactivation pattern in carrier women (Abidi et al., 2005). Other more variable features include hypogonadism, deafness, renal anomalies, and mild skeletal defects.X-linked alpha-thalassemia/mental retardation syndrome (ATR-X; {301040}) is an allelic disorder with a similar phenotype with the addition of alpha-thalassemia and Hb H inclusion bodies in erythrocytes.

MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, 1; MRXHF1 Is also known as smith-fineman-myers syndrome 1|chudley-lowry syndrome|holmes-gang syndrome|mental retardation, x-linked, with growth retardation, deafness, and microgenitalism|xlmr-hypotonic facies syndrome|carpenter-waziri syndrome|sfms|sfm1|jms|juberg-marsidi syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, 1; MRXHF1

Lenz microphthalmia syndrome is a very rare X-linked inherited form of syndromic microphthalmia (see this term) characterized by unilateral or bilateral microphthalmia (and/or clinical anophthalmia) with or without coloboma in addition to a range of extraocular manifestations such as microcephaly, malformed ears, dental abnormalities (i.e. irregular shape of incisors), skeletal anomalies (duplicated thumbs, syndactyly, clinodactyly, camptodactyly (see these terms)), urogenital anomalies (hypospadias, cryptorchidism, renal dysgenesis, hydroureter) and mild to severe intellectual disability. It is allelic to two disorders: oculofaciocardiodental syndrome and premature aging appearance-developmental delay-cardiac arrhythmia syndrome (see these terms).

MICROPHTHALMIA, LENZ TYPE Is also known as lenz microphthalmia syndrome|lenz dysplasia|lenz microphthalmia|maa, formerly

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about MICROPHTHALMIA, LENZ TYPE

Renpenning syndrome is an X-linked mental retardation syndrome with clinically recognizable features. Affected individuals have microcephaly, short stature, small testes, and dysmorphic facies, including tall narrow face, upslanting palpebral fissures, abnormal nasal configuration, cupped ears, and short philtrum. The nose may appear long or bulbous, with overhanging columella. Less consistent manifestations include ocular colobomas, cardiac malformations, cleft palate, and anal anomalies. Stevenson et al. (2005) proposed that the various X-linked mental retardation syndromes due to PQBP1 mutations be combined under the name of Renpenning syndrome.

RENPENNING SYNDROME 1; RENS1 Is also known as mrxs3|mental retardation, x-linked, syndromic 3|shs|mental retardation, x-linked, renpenning type|golabi-ito-hall syndrome|mental retardation, x-linked 55|mental retardation, x-linked, syndromic 8|mrxs8|mrx55|mental retardation, x-linked, with spastic dip

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about RENPENNING SYNDROME 1; RENS1

The Cornelia de Lange syndrome (CDLS) is a multisystem malformation syndrome recognized primarily on the basis of characteristic facial dysmorphism, including low anterior hairline, arched eyebrows, synophrys, anteverted nares, maxillary prognathism, long philtrum, thin lips, and 'carp' mouth, in association with prenatal and postnatal growth retardation, mental retardation and, in many cases, upper limb anomalies. However, there is wide clinical variability in this disorder, with milder phenotypes that may be difficult to ascertain on the basis of physical features (summary by Rohatgi et al., 2010).Boyle et al. (2015) provided a detailed review of CDLS, including clinical features, diagnosis, and genetic counseling. Genetic Heterogeneity of Cornelia de Lange SyndromeAbout 50 to 60% of the cases of CDLS are due to mutation in the NIPBL gene (Musio et al., 2006; Rohatgi et al., 2010).One X-linked form of CDLS (CDLS2 ) is caused by mutation in the SMC1A gene (OMIM ), which accounts for about 5% of cases. Two milder variants of Cornelia de Lange syndrome have been identified: CDLS3 (OMIM ), caused by mutation in the SMC3 gene (OMIM ), and CDLS4 (OMIM ), caused by mutation in the RAD21 gene (OMIM ). All 4 genes, NIPBL, SMC1A, SMC3, and RAD21, encode components of the cohesin complex. Another X-linked form, CDLS5 (OMIM ), is caused by mutation in the HDAC8 gene (OMIM ), the vertebrate histone deacetylase of SMC3.

CORNELIA DE LANGE SYNDROME 1; CDLS1 Is also known as typus degenerativus amstelodamensis|brachmann-de lange syndrome|cdl|de lange syndrome|cdls|bdls

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about CORNELIA DE LANGE SYNDROME 1; CDLS1

Smith-Lemli-Opitz syndrome (SLOS) is characterized by multiple congenital anomalies, intellectual deficit, and behavioral problems.

SMITH-LEMLI-OPITZ SYNDROME Is also known as rutledge lethal multiple congenital anomaly syndrome|slos|lethal acrodysgenital syndrome|rsh syndrome|slo syndrome|7-dehydrocholesterol reductase deficiency|polydactyly, sex reversal, renal hypoplasia, and unilobar lung

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about SMITH-LEMLI-OPITZ SYNDROME

Autosomal recessive primary microcephaly (MCPH) is a rare genetically heterogeneous disorder of neurogenic brain development characterized by reduced head circumference at birth with no gross anomalies of brain architecture and variable degrees of intellectual impairment.

AUTOSOMAL RECESSIVE PRIMARY MICROCEPHALY Is also known as mcph|premature chromosome condensation with microcephaly and mental retardation|pcc syndrome|true microcephaly|premature chromosome condensation syndrome|microcephalia vera|microcephaly vera

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE PRIMARY MICROCEPHALY

Top 5 symptoms//phenotypes associated to Intellectual disability, severe and Renal hypoplasia

Symptoms // Phenotype % cases
Microcephaly Very Common - Between 80% and 100% cases
Growth delay Very Common - Between 80% and 100% cases
Intellectual disability Very Common - Between 80% and 100% cases
Global developmental delay Common - Between 50% and 80% cases
Micrognathia Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Intellectual disability, severe and Renal hypoplasia. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Seizures

Uncommon Symptoms - Between 30% and 50% cases

Hearing impairment

Common Symptoms - More than 50% cases

Short stature

Uncommon Symptoms - Between 30% and 50% cases

Cryptorchidism

Common Symptoms - More than 50% cases

Low-set ears

Uncommon Symptoms - Between 30% and 50% cases

Epicanthus

Common Symptoms - More than 50% cases

Cleft palate

Uncommon Symptoms - Between 30% and 50% cases

High palate

Common Symptoms - More than 50% cases

Intrauterine growth retardation

Uncommon Symptoms - Between 30% and 50% cases

Scoliosis

Common Symptoms - More than 50% cases

Sensorineural hearing impairment

Uncommon Symptoms - Between 30% and 50% cases

Hypospadias

Common Symptoms - More than 50% cases

Abnormal facial shape

Uncommon Symptoms - Between 30% and 50% cases

Ptosis Hypertelorism Generalized hypotonia Microphthalmia Wide nasal bridge Strabismus Failure to thrive Narrow mouth Pectus excavatum Short neck Thin upper lip vermilion Feeding difficulties Ventricular septal defect Talipes equinovarus Anteverted nares Upslanted palpebral fissure Long philtrum Severe short stature Hyperactivity Aggressive behavior Camptodactyly Pyloric stenosis Pulmonary hypoplasia High, narrow palate Spasticity Kyphoscoliosis Cataract Micropenis Hydrocephalus Iris coloboma Vesicoureteral reflux Clinodactyly of the 5th finger Retrognathia Malar flattening Hypertonia Toe syndactyly Posteriorly rotated ears Autistic behavior Autism Glaucoma Syndactyly Abnormality of the kidney Clinodactyly Nystagmus Abnormality of cardiovascular system morphology Decreased testicular size Kyphosis Telecanthus Aganglionic megacolon Renal dysplasia Ventriculomegaly Abnormality of the dentition Gastroesophageal reflux Webbed neck Hydronephrosis Delayed speech and language development Depressed nasal bridge Behavioral abnormality Atrial septal defect Vomiting Renal hypoplasia/aplasia Joint contracture of the hand Abnormality of the urinary system Wide intermamillary distance Proximal placement of thumb Abnormal heart morphology Hyperreflexia Wide mouth Optic atrophy Self-injurious behavior Abnormality of the pinna Hypoplasia of the corpus callosum Intellectual disability, moderate Delayed skeletal maturation

Rare Symptoms - Less than 30% cases

Renal cyst Congenital diaphragmatic hernia Multicystic kidney dysplasia Hypoplasia of the frontal lobes Choanal atresia Sleep disturbance Hypogonadism Abnormality of digit Cutis marmorata Pneumonia Constipation Short nose Unilateral renal agenesis Metatarsus adductus Hydroureter Brachydactyly Micromelia 2-3 toe syndactyly Poor suck Increased body weight Hip dislocation Clubbing Abnormal form of the vertebral bodies Proptosis Recurrent otitis media Dental crowding Aplasia/Hypoplasia of the corpus callosum Chorioretinal coloboma Fever Hypertension Abnormality of dental morphology Delayed eruption of teeth Spastic diplegia Self-mutilation Sclerocornea Optic nerve coloboma Brachycephaly Mandibular prognathia Triangular face Abnormality of the ribs Microcornea Anal atresia Spastic paraplegia Widely spaced teeth Craniosynostosis Hypoglycemia Paraplegia Thick eyebrow Tapered finger Narrow forehead Abnormality of the genital system Narrow face Scrotal hypoplasia Finger syndactyly Radial deviation of finger Bilateral cryptorchidism Mild short stature Talipes calcaneovalgus Abnormality of the skeletal system Blindness Low-set, posteriorly rotated ears Coloboma Situs inversus totalis Cleft upper lip Peripheral demyelination Recurrent hypoglycemia Joint stiffness Respiratory tract infection Postnatal growth retardation Polyhydramnios Agenesis of corpus callosum Cerebellar hypoplasia Inguinal hernia Skeletal muscle atrophy Proteinuria Motor delay Flexion contracture Blepharophimosis Muscular hypotonia Sparse hair Down-sloping shoulders Attention deficit hyperactivity disorder Hypoplasia of penis Thick lower lip vermilion Hypoplasia of the brainstem Protruding ear Abnormal dermatoglyphics Bifid scrotum Hypoplastic nipples Downslanted palpebral fissures Myopia Blue sclerae Diabetes mellitus Downturned corners of mouth Macrotia Hyperlordosis Camptodactyly of finger Small for gestational age Arachnodactyly Renal agenesis Hypothyroidism Hernia Postaxial hand polydactyly Optic nerve hypoplasia Dandy-Walker malformation Alopecia Hypertropia Esophageal stenosis Hypoplastic male external genitalia Astigmatism Curly eyelashes Vertigo Absent hand Gastroparesis Thin vermilion border Supernumerary ribs Phocomelia Hand oligodactyly Perimembranous ventricular septal defect Hirsutism Short sternum Left-to-right shunt Spontaneous abortion Projectile vomiting Diarrhea Hypoplasia of the bladder Skeletal dysplasia Synophrys Polydactyly Pulmonic stenosis Patent ductus arteriosus Recurrent infections Edema Duplication of internal organs Dysplastic tricuspid valve Abnormality of brain morphology Hypoplastic radial head Abnormality of the umbilicus Reduced renal corticomedullary differentiation Otitis media with effusion Panhypopituitarism Malrotation of colon Peters anomaly Thick upper lip vermilion Volvulus Deep philtrum Convex nasal ridge Microdontia Hemivertebrae High myopia Tricuspid regurgitation Short metatarsal Low posterior hairline Incoordination Otitis media Hypertrichosis Recurrent urinary tract infections Long eyelashes Aspiration Low anterior hairline Elbow flexion contracture Hypoplasia of the radius Relative macrocephaly Short middle phalanx of finger Sepsis Small hand Poor appetite Torticollis Abnormality of the gastrointestinal tract Hypoplastic labia majora Esophagitis Highly arched eyebrow Aspiration pneumonia Hiatus hernia Ectrodactyly Ichthyosis Oligodactyly Single transverse palmar crease Dislocated radial head Weak cry Hypotrichosis Limited elbow extension Opisthotonus Plagiocephaly Ectopic kidney Decreased fetal movement Feeding difficulties in infancy Abnormal localization of kidney Mesomelic short stature Broad alveolar ridges Gastroschisis Increased nuchal translucency Ectopic calcification Ureteropelvic junction obstruction Advanced eruption of teeth Decreased circulating aldosterone level Hypocholesterolemia Aplasia/Hypoplasia affecting the eye Hip subluxation Abnormal renal morphology Gastrointestinal dysmotility Abnormality of the larynx Cholestatic liver disease Bicornuate uterus Breech presentation Bifid tongue Overlapping fingers Sex reversal Median cleft palate Increased serum testosterone level Tracheal stenosis Sloping forehead Small cerebral cortex Bird-like facies Abnormal cortical bone morphology Mild microcephaly Chromosome breakage Hypergonadotropic hypogonadism Pachygyria Heterotopia Spastic tetraplegia Tetraplegia Periventricular gray matter heterotopia Elevated 7-dehydrocholesterol Abnormality of limbs Facial capillary hemangioma Opsoclonus Severe photosensitivity Alveolar ridge overgrowth Sleep-wake cycle disturbance Septate vagina Abnormality of the gallbladder Excessive daytime somnolence Severe failure to thrive Postaxial polydactyly Split hand Hypercholesterolemia Holoprosencephaly Abnormality of dental enamel Hyperbilirubinemia Short toe Short thumb Gingival overgrowth Rhizomelia Amblyopia Cutaneous photosensitivity Reduced number of teeth Intellectual disability, profound Coarctation of aorta Oligohydramnios Ambiguous genitalia Eczema Limb undergrowth Intestinal malrotation Premature birth Hypopigmentation of the skin Abnormality of the metacarpal bones Precocious puberty Microglossia Ulnar deviation of finger Male pseudohermaphroditism Postaxial foot polydactyly Upper limb undergrowth Abnormal eyelash morphology Severe intrauterine growth retardation Abnormal lung lobation Epiphyseal stippling Hypopigmentation of hair Aplasia/Hypoplasia of the radius Increased number of teeth Hyponatremia Biparietal narrowing Atrioventricular canal defect Mesomelia Hyperkalemia Adrenal insufficiency Overlapping toe Aplasia/Hypoplasia of the cerebellum Hammertoe Clitoral hypertrophy Prominent nasal bridge Narrow foot Pallor Intellectual disability, progressive Hyperglycemia Polyuria Encephalitis Tented upper lip vermilion Brisk reflexes Infantile muscular hypotonia Drooling High pitched voice Ketoacidosis Slender finger Exotropia Maternal diabetes Open mouth Prominent superficial veins Macroglossia Thick vermilion border Kinetic tremor Increased vertebral height External genital hypoplasia Abnormality of blood and blood-forming tissues Abnormality of the foot Alternating exotropia Abnormal vertebral morphology Truncal ataxia Type I diabetes mellitus Visual impairment Oligodontia Triangular nasal tip Overjet Paroxysmal bursts of laughter Hypoplastic philtrum Protruding tongue Equinovarus deformity Widely-spaced maxillary central incisors Polydipsia Bilateral renal hypoplasia U-Shaped upper lip vermilion Short upper lip Lower limb hypertonia Asplenia Facial hypotonia Genu valgum Nail dystrophy Fine hair Myotonia Submucous cleft hard palate Absent septum pellucidum Abnormality of the sternum Decreased muscle mass Pectus carinatum Dextrocardia Muscular dystrophy Mask-like facies Congenital contracture Distal arthrogryposis Radioulnar synostosis Arthrogryposis multiplex congenita Talipes Bifid uvula Wide anterior fontanel Abnormality of the face Specific learning disability Short palpebral fissure Restlessness Colpocephaly Dolichocephaly Abnormal anatomic location of the heart Microtia Pes planus Coarse facial features Cerebral cortical atrophy Myopathy Areflexia Obesity Midface retrusion Fixed facial expression Abnormality of the upper urinary tract Aplasia/Hypoplasia involving the skeletal musculature Inferior vermis hypoplasia Zollinger-Ellison syndrome Abnormality of the penis Abnormality of the cerebellar vermis Congenital ptosis Limb joint contracture Epispadias Primitive reflex Dilatation Hypotelorism Hypertrophic cardiomyopathy Failure to thrive in infancy Small face Abnormality of the thumb Sparse lateral eyebrow Ankylosis Sprengel anomaly Prominent metopic ridge High hypermetropia Cupped ear Nasal speech Heterotaxy Cachexia Abnormality of the hair Tetralogy of Fallot Prominent nose Stage 5 chronic kidney disease Hypoplasia of the maxilla Bulbous nose Long face Abnormality of the rib cage Thin eyebrow Short philtrum Umbilical hernia Conductive hearing impairment Renal insufficiency Hyperhidrosis Prominent forehead Thrombocytopenia Headache Cardiomyopathy Macrocephaly Anemia Broad columella Neoplasm Abnormal hair laboratory examination Decreased head circumference Interphalangeal joint contracture of finger Round ear Phimosis Moderately short stature Macrodontia Anteverted ears Hypermetropia Abnormality of the nervous system Round face Preauricular skin tag Anophthalmia Aplasia/Hypoplasia of the nipples Chordee Overfolded helix Dysarthria Bicuspid aortic valve Tremor Muscle stiffness Gait ataxia Agenesis of permanent teeth Lumbar hyperlordosis Brain atrophy Oral cleft Delayed puberty Dysmetria Narrow chest Neurological speech impairment Full cheeks Delayed myelination Telangiectasia of the skin Short clavicles Anxiety Agenesis of maxillary lateral incisor Everted lower lip vermilion Dental malocclusion Pes cavus Cerebral atrophy Intellectual disability, mild Pancytopenia Telangiectasia Ciliary body coloboma Abnormal palmar dermatoglyphics External ear malformation Complete duplication of thumb phalanx Long thorax Abnormality of the shoulder Ankyloblepharon Rectal prolapse Shield chest Misalignment of teeth Abnormality of the clavicle Congenital sensorineural hearing impairment Increased rate of premature chromosome condensation


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