Intellectual disability, severe, and Hypospadias

Diseases related with Intellectual disability, severe and Hypospadias

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

Top matches:

High match TRISOMY XQ28

Distal Xq duplications refer to chromosomal disorders resulting from involvement of the long arm of the X chromosome (Xq). Clinical manifestations vary widely depending on the gender of the patient and on the gene content of the duplicated segment. The prevalence of Xq duplications remains unknown.

TRISOMY XQ28 Is also known as distal duplication xq|telomeric duplication xq

Related symptoms:

  • Global developmental delay
  • Short stature
  • Cryptorchidism
  • Ptosis
  • Epicanthus


SOURCES: ORPHANET MENDELIAN

More info about TRISOMY XQ28

Acrocallosal syndrome (ACS) is a polymalformative syndrome characterized by agenesis of corpus callosum (CC), distal anomalies of limbs, minor craniofacial anomalies and intellectual deficit.

ACROCALLOSAL SYNDROME Is also known as acs

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about ACROCALLOSAL SYNDROME

BILATERAL GENERALIZED POLYMICROGYRIA Is also known as pmgys|polymicrogyria with seizures

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about BILATERAL GENERALIZED POLYMICROGYRIA

Other less relevant matches:

Corpus callosum agenesis-abnormal genitalia syndrome is a rare, genetic developmental defect during embryogenesis syndrome characterized by agenesis of the corpus callosum, mild to severe neurological manifestations (intellectual disability, developmental delay, epilepsy, dystonia), and urogenital anomalies (hypospadias, cryptorchidism, renal dysplasia, ambiguous genitalia). Additionally, skeletal anomalies (limb contractures, scoliosis), dysmorphic facial features (prominent supraorbital ridges, synophris, large eyes) and optic atrophy have been observed.

CORPUS CALLOSUM AGENESIS-ABNORMAL GENITALIA SYNDROME Is also known as proud syndrome|microcephaly-corpus callosum agenesis-abnormal genitalia syndrome|acc with abnormal genitalia|acc-abnormal genitalia syndrome|proud-levine-carpenter syndrome

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about CORPUS CALLOSUM AGENESIS-ABNORMAL GENITALIA SYNDROME

High match MEHMO SYNDROME

MEHMO syndrome is characterised by severe intellectual deficit, epilepsy, microcephaly, hypogenitalism, and obesity. Growth delay and diabetes are also present. To date, it has been described in seven boys, all of whom died within the first two years of life. The causative gene has been localised to the 21.1-22.13p region of the X chromosome and the syndrome appears to result from mitochondrial dysfunction.

MEHMO SYNDROME Is also known as mental retardation, x-linked, syndromic 25|mental retardation, x-linked, syndromic, borck type|x-linked intellectual disability-epileptic seizures-hypogenitalism-microcephaly-obesity syndrome|mrxs25|mrxsbrk|mrxs20|mental retardation, x-linked, syndromic 2

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about MEHMO SYNDROME

X-linked intellectual disability, Cabezas type is characterised by intellectual deficit, muscle wasting, short stature, a prominent lower lip, small testes, kyphosis and joint hyperextensibility. An abnormal gait, tremor, decreased fine motor coordination and impaired speech are also present. The syndrome has been described in six boys from three generations of the same family. Transmission is X-linked and the causative gene has been localised to the q24-q25 region of the X chromosome.

X-LINKED INTELLECTUAL DISABILITY, CABEZAS TYPE Is also known as cabezas syndrome|mrss|mrxs15|mental retardation, x-linked, with short stature|mental retardation, x-linked, with short stature, hypogonadism, and abnormal gait|mental retardation, x-linked, syndromic 15

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY, CABEZAS TYPE

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

ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, X-LINKED; ATRX Is also known as alpha-thalassemia/mental retardation syndrome, nondeletion type|atr, nondeletion type|atr-x syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, X-LINKED; ATRX

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

The acrocallosal syndrome is an autosomal recessive mental retardation syndrome with brain abnormalities such as corpus callosum agenesis and/or Dandy-Walker malformation as well as dysmorphic features, postaxial polydactyly of the hands, and preaxial polydactyly of the feet (Schinzel and Schmid, 1980). It is considered a ciliopathy (Putoux et al., 2011).Joubert syndrome-12 is a disorder with an overlapping phenotype characterized by the hallmark finding of the molar tooth sign (MTS) on brain MRI. For a phenotypic description and a discussion of genetic heterogeneity of Joubert syndrome, see {213300}.Hydrolethalus-2 (HLS2 ) is an allelic disorder with a more severe phenotype and death in utero.

ACROCALLOSAL SYNDROME; ACLS Is also known as hallux duplication, postaxial polydactyly, and absence of corpus callosum|schinzel acrocallosal syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about ACROCALLOSAL SYNDROME; ACLS

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

Symptoms // Phenotype % cases
Cryptorchidism 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
Seizures Common - Between 50% and 80% cases
Micropenis Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Growth delay

Uncommon Symptoms - Between 30% and 50% cases

Microcephaly

Common Symptoms - More than 50% cases

Short stature

Uncommon Symptoms - Between 30% and 50% cases

Generalized hypotonia

Common Symptoms - More than 50% cases

Epicanthus

Uncommon Symptoms - Between 30% and 50% cases

Abnormal facial shape

Common Symptoms - More than 50% cases

Hypertelorism

Uncommon Symptoms - Between 30% and 50% cases

Inguinal hernia Hyperactivity Tapered finger Spasticity High palate Strabismus Brachydactyly Intellectual disability, moderate Agenesis of corpus callosum Hypertonia Hypoplasia of the corpus callosum Flexion contracture Ventriculomegaly Motor delay Low-set ears Wide nasal bridge Posteriorly rotated ears Micrognathia Sensorineural hearing impairment Talipes equinovarus Cleft palate Severe global developmental delay Anteverted nares Short nose Absent speech Abnormality of the genital system Muscular hypotonia Cerebellar hypoplasia Clinodactyly EEG abnormality Nystagmus Thick vermilion border Aggressive behavior Hypogonadism Obesity Postnatal growth retardation Long philtrum Coarse facial features Optic atrophy Scoliosis Kyphoscoliosis Open mouth Intrauterine growth retardation Thick lower lip vermilion Ptosis Blepharophimosis Abnormality of the pinna Tented upper lip vermilion Macroglossia Macrocephaly Dandy-Walker malformation Short neck Sloping forehead Depressed nasal bridge Wide anterior fontanel Ventricular septal defect Hearing impairment Failure to thrive External genital hypoplasia Drooling

Rare Symptoms - Less than 30% cases

Facial hypotonia Widely-spaced maxillary central incisors Hyperreflexia Delayed speech and language development Radial deviation of finger Widely spaced teeth Camptodactyly of finger Wide mouth Short philtrum Toe syndactyly Triangular mouth Midface retrusion Limb joint contracture Abnormal hair pattern Pes planus Clinodactyly of the 5th finger Protruding tongue Microtia Umbilical hernia Gastroesophageal reflux Gait ataxia Pneumonia Abdominal obesity Constipation Restlessness Attention deficit hyperactivity disorder Telecanthus Skeletal muscle atrophy Hypoplasia of penis Delayed puberty Infantile muscular hypotonia Interphalangeal joint contracture of finger Kyphosis Decreased testicular size Downslanted palpebral fissures Synophrys Feeding difficulties Postaxial hand polydactyly Poor speech Cerebral atrophy Severe short stature Renal agenesis Renal hypoplasia Molar tooth sign on MRI Prominent occiput Aplasia/Hypoplasia of the corpus callosum Ambiguous genitalia Retinal dystrophy Tetraparesis Postaxial polydactyly Polydactyly Ataxia Hydroureter Everted lower lip vermilion Neurological speech impairment Joint stiffness Delayed skeletal maturation Pectus excavatum Gait disturbance Polymicrogyria Bifid uvula Spastic tetraparesis Cerebral cortical atrophy Hydronephrosis Mild short stature Abnormality of the kidney U-Shaped upper lip vermilion Vomiting Retrognathia Abnormality of cardiovascular system morphology Renal dysplasia Malar flattening Lissencephaly Intellectual disability, progressive Renal hypoplasia/aplasia Absent septum pellucidum Distal arthrogryposis Abnormality of the sternum Volvulus Submucous cleft hard palate Decreased serum testosterone level Anemia Decreased muscle mass Dysphagia Hypochromic microcytic anemia Perimembranous ventricular septal defect Dextrocardia Abnormality of metabolism/homeostasis Chronic constipation Male pseudohermaphroditism Colpocephaly Coxa valga Abnormality of the penis Abnormality of the cerebellar vermis Zollinger-Ellison syndrome Flat face Abdominal pain Dental malocclusion Recurrent urinary tract infections Aganglionic megacolon Congenital ptosis Aspiration Hemivertebrae Irritability Inferior vermis hypoplasia Aplasia/Hypoplasia involving the skeletal musculature Epispadias Primitive reflex Spastic diplegia Microcytic anemia Fixed facial expression Abnormal anatomic location of the heart Pain Abnormality of the upper urinary tract Shawl scrotum Ileus Equinovarus deformity Abnormal hemoglobin Cleft upper lip Finger clinodactyly Spontaneous abortion Preauricular skin tag Omphalocele Wide intermamillary distance Esotropia Thin vermilion border Smooth philtrum Preaxial polydactyly Anal atresia Finger syndactyly Broad forehead Abnormal cardiac septum morphology Coloboma Apnea Hypothyroidism Microretrognathia Preaxial hand polydactyly Abnormal heart morphology Hypoplasia of teeth Intracranial cystic lesion Bifid distal phalanx of the thumb Duplication of thumb phalanx Duplication of phalanx of hallux Cerebral hypoplasia Abnormal pulmonary valve morphology Hypopigmentation of the fundus Rectovaginal fistula Diabetes insipidus Preaxial foot polydactyly Diastasis recti Postaxial foot polydactyly Arachnoid cyst Anencephaly Abnormality of digit Partial agenesis of the corpus callosum Prominent forehead Hernia Absent frontal sinuses Nail dystrophy Exotropia Narrow forehead Vesicoureteral reflux Thick eyebrow Paraplegia Genu valgum Abnormality of the foot Spastic paraplegia Increased body weight Dolichocephaly Thin upper lip vermilion Upslanted palpebral fissure Hypoganglionosis Hemoglobin H Endometriosis Reduced alpha/beta synthesis ratio Narrow face Scrotal hypoplasia Syndactyly Hypoplastic philtrum Abnormality of the dentition Frontal bossing Hypertension Triangular nasal tip Overjet Paroxysmal bursts of laughter Alternating exotropia Mask-like facies Encephalitis Talipes calcaneovalgus Bilateral renal hypoplasia Short upper lip Lower limb hypertonia Asplenia Abnormality of blood and blood-forming tissues Slender finger Bilateral cryptorchidism Metatarsus adductus Cachexia Hypoplasia of the brainstem Babinski sign Hypoglycemia Difficulty walking Macrotia Acidosis Autism Diabetes mellitus Myopia Cleft lip Hyperconvex nail Broad alveolar ridges Abnormally large globe Infantile spasms Abnormality of the hip bone Overlapping toe Muscular hypotonia of the trunk Small for gestational age Generalized hirsutism Lower limb spasticity Male hypogonadism Large earlobe Depressed nasal tip Agitation Pancreatitis Progressive microcephaly Growth hormone deficiency Lactic acidosis Round face Full cheeks Broad nasal tip Downturned corners of mouth Inability to walk Long face Prominent supraorbital ridges Low anterior hairline Tall chin Triphalangeal thumb Craniosynostosis Cerebellar atrophy Dysarthria Abnormality of the clavicle Nephronophthisis Aplasia/Hypoplasia of the cerebellum Oculomotor apraxia Pachygyria Tall stature Apraxia Congenital diaphragmatic hernia Retinopathy Hernia of the abdominal wall Abnormality of chromosome segregation Abnormal pyramidal sign Heterotopia Spastic tetraplegia Gray matter heterotopias Tetraplegia Hirsutism Protruding ear Neonatal hypotonia Visual impairment Short corpus callosum Abnormality of the spinal cord Unilateral renal agenesis Abnormal corpus callosum morphology Duodenal atresia Cardiorespiratory arrest Severe failure to thrive Ectopic kidney Multiple joint contractures Birth length less than 3rd percentile Tremor Myotonia Microphthalmia Pectus carinatum Respiratory tract infection Camptodactyly Polyhydramnios Narrow mouth Areflexia Myopathy Arthrogryposis multiplex congenita Hydrocephalus Abnormality of toe Moderately short stature Mood swings Small earlobe Abnormality of earlobe Muscular dystrophy Talipes Tics Situs inversus totalis Congenital contracture Radioulnar synostosis Pyloric stenosis Abnormality of the urinary system Multicystic kidney dysplasia Joint contracture of the hand Abnormality of the face Arachnodactyly Abnormal form of the vertebral bodies Short palpebral fissure Peripheral demyelination Specific learning disability High, narrow palate Pulmonary hypoplasia Panhypopituitarism Distal lower limb amyotrophy Behavioral abnormality Joint hypermobility Memory impairment Prominent nose Short foot Small hand Short palm Bulbous nose Joint hyperflexibility Broad-based gait Joint laxity High forehead Mandibular prognathia Hyperhidrosis Pes cavus Immunodeficiency Intention tremor Short thumb Down-sloping shoulders Cortical gyral simplification Scaphocephaly Striae distensae Biparietal narrowing Cerebellar vermis atrophy Abnormality of the musculature Truncal obesity Cortical dysplasia Gynecomastia Open bite Large hands Cubitus valgus Relative macrocephaly Acanthosis nigricans Sandal gap Narrow palpebral fissure Pulmonary valve defects


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