Intellectual disability, severe, and Hypopigmentation of the skin

Diseases related with Intellectual disability, severe and Hypopigmentation of the skin

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

Top matches:

Classical phenylketonuria is a severe form of phenylketonuria (PKU, see this term) an inborn error of amino acid metabolism characterized in untreated patients by severe intellectual deficit and neuropsychiatric complications.

CLASSIC PHENYLKETONURIA Is also known as classic pku

Related symptoms:

  • Seizures
  • Global developmental delay
  • Microcephaly
  • Growth delay
  • Cataract


SOURCES: ORPHANET MENDELIAN

More info about CLASSIC PHENYLKETONURIA

Waardenburg syndrome type 3 is an auditory-pigmentary syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes; congenital sensorineural hearing loss; presence of 'dystopia canthorum,' the lateral displacement of the ocular inner canthi; and upper limb abnormalities (reviews by Read and Newton, 1997 and Pingault et al., 2010). WS type 3 is also referred to as 'Klein-Waardenburg syndrome' (Gorlin et al., 1976). Clinical Variability of Waardenburg Syndrome Types 1-4Waardenburg syndrome has been classified into 4 main phenotypes. Type I Waardenburg syndrome (WS1 ) is characterized by pigmentary abnormalities of the hair, including a white forelock and premature graying; pigmentary changes of the iris, such as heterochromia iridis and brilliant blue eyes; congenital sensorineural hearing loss; and 'dystopia canthorum.' WS type II (WS2) is distinguished from type I by the absence of dystopia canthorum. WS type III has dystopia canthorum and is distinguished by the presence of upper limb abnormalities. WS type IV (WS4 ), also known as Waardenburg-Shah syndrome, has the additional feature of Hirschsprung disease (reviews by Read and Newton, 1997 and Pingault et al., 2010).

WAARDENBURG SYNDROME, TYPE 3; WS3 Is also known as klein-waardenburg syndrome|waardenburg syndrome, type iii|waardenburg syndrome with upper limb anomalies

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly
  • Hypertelorism


SOURCES: OMIM MENDELIAN

More info about WAARDENBURG SYNDROME, TYPE 3; WS3

Angelman syndrome is a neurodevelopmental disorder characterized by mental retardation, movement or balance disorder, typical abnormal behaviors, and severe limitations in speech and language. Most cases are caused by absence of a maternal contribution to the imprinted region on chromosome 15q11-q13. Prader-Willi syndrome (PWS ) is a clinically distinct disorder resulting from paternal deletion of the same 15q11-q13 region. In addition, the chromosome 15q11-q13 duplication syndrome (OMIM ) shows overlapping clinical features.Clayton-Smith and Pembrey (1992) provided a review of Angelman syndrome. Cassidy and Schwartz (1998) reviewed the molecular and clinical aspects of both Prader-Willi syndrome and Angelman syndrome. Horsthemke and Wagstaff (2008) provided a detailed review of the mechanisms of imprinting of the Prader-Willi/Angelman syndrome region.Van Buggenhout and Fryns (2009) provided a review of Angelman syndrome and discussed genetic counseling of the disorder, which can show a recurrence risk of up to 50%, depending on the underlying genetic mechanism.

ANGELMAN SYNDROME; AS Is also known as happy puppet syndrome, formerly

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about ANGELMAN SYNDROME; AS

Other less relevant matches:

Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease (PCWH) is a systemic disease characterized by the association of the features of Waardenburg-Shah syndrome (WSS) with neurological features of variable severity.

PERIPHERAL DEMYELINATING NEUROPATHY-CENTRAL DYSMYELINATING LEUKODYSTROPHY-WAARDENBURG SYNDROME-HIRSCHSPRUNG DISEASE Is also known as neurologic waardenburg-shah syndrome|waardenburg-shah syndrome, neurologic variant|pcwh|ws4 plus

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about PERIPHERAL DEMYELINATING NEUROPATHY-CENTRAL DYSMYELINATING LEUKODYSTROPHY-WAARDENBURG SYNDROME-HIRSCHSPRUNG DISEASE

Medium match MENKES DISEASE

Menkes disease (MD) is a usually severe multisystemic disorder of copper metabolism, characterized by progressive neurodegeneration and marked connective tissue anomalies as well as typical sparse abnormal steely hair.

MENKES DISEASE Is also known as steely hair syndrome|md|trichopoliodystrophy|mnk|menkes syndrome|steely hair disease|copper transport disease|mk|kinky hair syndrome|x-linked copper deficiency|kinky hair disease

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about MENKES DISEASE

Pitt-Hopkins syndrome (PHS) is characterized by the association of intellectual deficit, characteristic facial dysmorphism and problems of abnormal and irregular breathing.

PITT-HOPKINS SYNDROME Is also known as encephalopathy, severe epileptic, with autonomic dysfunction|mental retardation, syndromal, with intermittent hyperventilation

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about PITT-HOPKINS SYNDROME

Microphthalmia with limb anomalies, also known as ophthalmo-acromelic syndrome (OAS), is a rare developmental disorder characterized by bilateral microphthalmia or anophthalmia, synostosis, syndactyly, oligodactyly and/or polydactyly.

MICROPHTHALMIA WITH LIMB ANOMALIES Is also known as waardenburg anophthalmia syndrome|waardenburg syndrome, type ivc|waardenburg syndrome with hirschsprung disease, type 4c|oas|anophthalmia-syndactyly syndrome|ophthalmoacromelic syndrome

Related symptoms:

  • Short stature
  • Hearing impairment
  • Failure to thrive
  • Micrognathia
  • Sensorineural hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about MICROPHTHALMIA WITH LIMB ANOMALIES

Prader-Willi syndrome is characterized by diminished fetal activity, obesity, muscular hypotonia, mental retardation, short stature, hypogonadotropic hypogonadism, and small hands and feet. It can be considered to be an autosomal dominant disorder and is caused by deletion or disruption of a gene or several genes on the proximal long arm of the paternal chromosome 15 or maternal uniparental disomy 15, because the gene(s) on the maternal chromosome(s) 15 are virtually inactive through imprinting. Horsthemke and Wagstaff (2008) provided a detailed review of the mechanisms of imprinting of the Prader-Willi/Angelman syndrome (OMIM ) region.See also the chromosome 15q11-q13 duplication syndrome (OMIM ), which shows overlapping clinical features.

PRADER-WILLI SYNDROME; PWS Is also known as prader-labhart-willi syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about PRADER-WILLI SYNDROME; PWS

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

Low match ANE SYNDROME

ANE syndrome is a rare, genetic, neuro-endocrino-cutaneous disorder characterized by highly variable degrees of alopecia, moderate to severe intellectual disability, progressive, late-onset motor deterioration and combined anterior pituitary hormone deficiency, manifesting with central hypogonadotropic hypogonadism, delayed or absent puberty, growth hormone deficiency (resulting in short stature), progressive central adrenal insufficiency and a hypoplastic anterior pituitary gland. Additional features include hypodontia, flexural reticulate hyperpigmentation, gynecomastia, microcephaly and kyphoscoliosis.

ANE SYNDROME Is also known as ane syndrome|alopecia-progressive neurological defect-endocrinopathy syndrome

Related symptoms:

  • Intellectual disability
  • Short stature
  • Microcephaly
  • Flexion contracture
  • Skeletal muscle atrophy


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about ANE SYNDROME

Top 5 symptoms//phenotypes associated to Intellectual disability, severe and Hypopigmentation of the skin

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Failure to thrive

Uncommon Symptoms - Between 30% and 50% cases

Growth delay

Common Symptoms - More than 50% cases

Cryptorchidism

Uncommon Symptoms - Between 30% and 50% cases

Hearing impairment

Common Symptoms - More than 50% cases

Short stature

Uncommon Symptoms - Between 30% and 50% cases

Muscular hypotonia Hypopigmentation of hair Motor delay Sensorineural hearing impairment Behavioral abnormality Autism Aganglionic megacolon Strabismus Nystagmus Feeding difficulties Scoliosis Myopia Vomiting Wide nasal bridge Talipes equinovarus Depressed nasal bridge Blue irides Abnormal facial shape Hypertelorism Hypopigmented skin patches Micrognathia Hypogonadism Self-injurious behavior Sleep disturbance Constipation Premature graying of hair Spasticity Hypertension Heterochromia iridis White hair White forelock Micropenis Upslanted palpebral fissure Intellectual disability, profound Albinism Ataxia Hypoglycemia Full cheeks Wide mouth Autistic behavior Feeding difficulties in infancy Fever Optic atrophy Gastroesophageal reflux Hyperactivity Kyphosis Intrauterine growth retardation Intellectual disability, moderate Mandibular prognathia Cleft palate Syndactyly High palate Attention deficit hyperactivity disorder Narrow forehead Prominent nasal bridge Hypertonia Adrenal insufficiency Flexion contracture Clinodactyly

Rare Symptoms - Less than 30% cases

Delayed puberty Fatigue Wide intermamillary distance Diarrhea Dilatation Osteoporosis Abnormal form of the vertebral bodies Severe global developmental delay Joint hyperflexibility Sepsis Postaxial hand polydactyly Toe syndactyly Abnormality of the metacarpal bones Postaxial foot polydactyly Edema Neonatal hypotonia Sleep-wake cycle disturbance Epicanthus Short nose Carious teeth Hyporeflexia Pes cavus Abnormality of the nervous system Finger syndactyly Peripheral demyelination Abnormal autonomic nervous system physiology Anosmia Abnormal eyebrow morphology Intestinal pseudo-obstruction White eyelashes White eyebrow Hip dislocation Coarse hair Gastrointestinal hemorrhage Scrotal hypoplasia Tapered finger Small hand Abnormality of the pinna Apnea Aplasia/Hypoplasia of the corpus callosum Sleep apnea Overweight Aggressive behavior Overlapping toe Precocious puberty Hypoplasia of the corpus callosum Short neck Acrocyanosis Poor suck Cutaneous photosensitivity Bowing of the long bones Microphthalmia Abnormal palate morphology Low-set, posteriorly rotated ears Specific learning disability Tarsal synostosis Prominent forehead Abnormality of lipid metabolism Hypothermia Decreased fetal movement Central adrenal insufficiency Venous insufficiency Long philtrum Hydrocephalus Anteverted nares Oligohydramnios Happy demeanor Ventriculomegaly Brachydactyly Neurological speech impairment Nausea and vomiting Widely spaced teeth Intellectual disability, progressive Blepharophimosis Generalized-onset seizure Hypermetropia Paraplegia Deeply set eye Hypoplasia of the maxilla Infertility Clumsiness Eczema Telecanthus Atrial septal defect Motor deterioration Postnatal microcephaly Abnormality of the face Anxiety Abnormality of the skeletal system Gait ataxia Cerebellar atrophy Arthrogryposis multiplex congenita Thick vermilion border Absent speech Inguinal hernia Hyperreflexia Astigmatism Polyphagia Abdominal distention Incoordination Obesity Encephalopathy Cataract Underdeveloped nasal alae Brachycephaly Inflammation of the large intestine Skeletal muscle atrophy Glucose intolerance Decreased muscle mass Skeletal muscle hypertrophy Truncal obesity Facial capillary hemangioma Narrow nasal bridge Abnormality of limbs External genital hypoplasia Elevated 7-dehydrocholesterol Excessive daytime somnolence Alveolar ridge overgrowth Myeloid leukemia Talipes calcaneovalgus Anteverted ears Poor fine motor coordination Abdominal obesity Cor pulmonale Generalized hypopigmentation Ocular albinism Mesomelic short stature Median cleft palate Hip subluxation Chromosome breakage Increased serum testosterone level Hypoplasia of the fovea Opsoclonus Oligomenorrhea Periventricular gray matter heterotopia Hypoplasia of the frontal lobes Abnormality of the gallbladder Central hypotonia Septate vagina Iris hypopigmentation Hypoventilation Pulmonary embolism Severe photosensitivity Striae distensae Impaired pain sensation Large hands Bicuspid aortic valve Emotional lability Leukemia Short foot Downturned corners of mouth Short palm Polymicrogyria Arachnodactyly Genu valgum Adrenocorticotropic hormone deficiency Ulnar deviation of the hand Ulnar deviation of the hand or of fingers of the hand Pruritus Dolichocephaly Stroke Growth hormone deficiency Respiratory tract infection Photophobia Thin upper lip vermilion Osteopenia Narrow mouth Weight loss Respiratory failure Diabetes mellitus Recurrent respiratory infections Intellectual disability, mild Abnormality of the dentition Congestive heart failure Esotropia Upper motor neuron dysfunction Radial deviation of finger Aortic valve stenosis Hyperinsulinemia Alopecia Failure to thrive in infancy Nasal speech Hypothyroidism Infantile muscular hypotonia Kyphoscoliosis Narrow palpebral fissure Spontaneous abortion Hypogonadotrophic hypogonadism Increased body weight Bradycardia Febrile seizures Insulin resistance Primary amenorrhea Psychosis Type II diabetes mellitus Hypodontia Abnormality of the cardiovascular system Hyperpigmentation of the skin Amenorrhea Gynecomastia Melanocytic nevus Reduced subcutaneous adipose tissue Hip dysplasia Clitoral hypoplasia Narrow palm Frontal upsweep of hair Optic nerve hypoplasia Bifid scrotum Unilateral renal agenesis Gastrointestinal dysmotility Hammertoe Clitoral hypertrophy Proximal placement of thumb Abnormal renal morphology Hyponatremia Pyloric stenosis Abnormality of the urinary system Reduced number of teeth Renal hypoplasia/aplasia Abnormality of dental morphology Abnormal dermatoglyphics Hypercholesterolemia Holoprosencephaly Abnormality of dental enamel Aplasia/Hypoplasia affecting the eye Abnormal localization of kidney Multicystic kidney dysplasia Short toe Short thumb Gingival overgrowth Rhizomelia Amblyopia Aplasia/Hypoplasia of the cerebellum Cutis marmorata Abnormality of the genital system Epiphyseal stippling Tracheal stenosis Sclerocornea Severe failure to thrive Microglossia Male pseudohermaphroditism Self-mutilation Overlapping fingers Upper limb undergrowth Abnormal eyelash morphology Bifid tongue Severe intrauterine growth retardation Abnormal lung lobation Aplasia/Hypoplasia of the radius Metatarsus adductus Breech presentation Ulnar deviation of finger Increased number of teeth Biparietal narrowing Abnormality of digit Atrioventricular canal defect Bicornuate uterus Cholestatic liver disease Mesomelia Abnormality of the larynx Hyperkalemia 2-3 toe syndactyly Dental crowding Split hand Erysipelas Downslanted palpebral fissures Glaucoma Polydactyly Posteriorly rotated ears Severe short stature Cerebellar hypoplasia Abnormal heart morphology Patent ductus arteriosus Hypospadias Abnormality of cardiovascular system morphology Gastroschisis Recurrent infections Ventricular septal defect Low-set ears Polyhydramnios Ptosis Acromicria Poor gross motor coordination Almond-shaped palpebral fissure Hypopnea Broad alveolar ridges Sex reversal Psychotic episodes Hypoplastic labia minora Temperature instability Triangular mouth Disseminated intravascular coagulation Proptosis Retrognathia Choanal atresia Dandy-Walker malformation Recurrent otitis media Renal hypoplasia Abnormality of the ribs Hypocholesterolemia Coarctation of aorta Congenital diaphragmatic hernia Decreased circulating aldosterone level Advanced eruption of teeth Ureteropelvic junction obstruction Hypoplasia of penis Ambiguous genitalia Limb undergrowth Ectopic calcification Skeletal dysplasia Renal agenesis Webbed neck Intestinal malrotation Premature birth Renal cyst Iris coloboma Postaxial polydactyly Increased nuchal translucency Pulmonary hypoplasia Micromelia Abnormality of the kidney Hydronephrosis Hyperbilirubinemia Open mouth Myopathy Distal sensory impairment Intestinal obstruction Portal hypertension Decreased nerve conduction velocity CNS hypomyelination Torticollis Spastic paraparesis Leukodystrophy Hypohidrosis Spastic tetraplegia Tetraplegia Coma Distal amyotrophy Demyelinating peripheral neuropathy Abnormal pyramidal sign Distal muscle weakness Hepatosplenomegaly Abdominal pain Myoclonus Areflexia Arrhythmia Splenomegaly Hepatomegaly Peripheral neuropathy Anisometropia Paroxysmal bursts of laughter Congenital nystagmus Ileus Large foramen magnum Spasmus nutans Sparse hair Developmental regression Joint laxity Jaundice Umbilical hernia Dementia Pectus excavatum Hernia Cerebral atrophy Dysarthria Muscle weakness Long-segment aganglionic megacolon Alacrima Dysmyelinating leukodystrophy Absent brainstem auditory responses Hypoplasia of the semicircular canal Myelin outfoldings Neonatal asphyxia Hypoplasia of the cochlea Meconium ileus Peripheral hypomyelination Spotty hyperpigmentation Decreased lacrimation Cerebral dysmyelination Microcolon Tongue thrusting Inappropriate laughter Narrow chest Anorexia Partial albinism Narrow naris Bronchomalacia Atelectasis Carpal synostosis Vitiligo Sprengel anomaly Cutaneous finger syndactyly Congenital sensorineural hearing impairment Scapular winging Joint contracture of the hand Abnormality of skin pigmentation Poliosis Synophrys Spastic paraplegia Camptodactyly of finger Cleft lip Hyperphenylalaninemia Lack of skin elasticity Hemiplegia Cerebral calcification Memory impairment Mental deterioration Depressivity Tremor Dacryocystitis Macrocephaly Limb tremor Hyperkinesis Moderate global developmental delay Profound global developmental delay Short attention span Fair hair Progressive gait ataxia Epileptic spasms Drowsiness Protruding tongue Atonic seizures Keratoconus Flat occiput Drooling Cerebral cortical atrophy Cerebral palsy Aspiration Exotropia Broad-based gait Status epilepticus Overgrowth Focal-onset seizure Macroglossia Abnormal cerebellum morphology Falls Abnormality of movement EEG abnormality Malabsorption Dry skin Delayed speech and language development Abnormal pattern of respiration Frontal bossing Overhanging nasal tip Triangular nasal tip Broad fingertip Intermittent hyperventilation Narrow foot Failure of eruption of permanent teeth Small cerebral cortex Square face Large beaked nose Pes valgus Thickened helices Cleft upper lip Breathing dysregulation Abnormality of the helix Clubbing of fingers Echolalia Misalignment of teeth Esophagitis Hiatus hernia Hyperventilation Hodgkin lymphoma Dysphasia Aphasia Supernumerary nipple Clinodactyly of the 5th finger Thin vermilion border Clubbing Hand oligodactyly Cognitive impairment Pain Neoplasm True anophthalmia Camptodactyly of 2nd-5th fingers Lacrimal gland hypoplasia Hypoplasia of the premaxilla Synostosis of joints Foot oligodactyly Macrodontia Arrhinencephaly Abnormality of the thumb Broad thumb Abnormality of the upper limb Abnormality of the lower limb Large earlobe Short tibia Synostosis of carpal bones Fibular hypoplasia Tibial bowing Elbow dislocation Short long bone Sandal gap Horseshoe kidney Bilateral single transverse palmar creases Cupped ear Short metatarsal Neurodegeneration Cutis laxa Prolonged neonatal jaundice Prominent occiput Opisthotonus Osteomyelitis Myopathic facies Cerebral hemorrhage Mask-like facies Metaphyseal widening Intracranial hemorrhage Hyperextensible skin Shock Spastic tetraparesis Atypical scarring of skin Joint dislocation Wormian bones Thickened skin Chronic diarrhea Abnormality of the metaphysis Choreoathetosis Sparse scalp hair Progressive neurologic deterioration Fine hair Tetraparesis Chorea Recurrent fractures Exostoses Woolly hair Mutism Pes planus Finger clinodactyly Truncal ataxia Thick lower lip vermilion Cyanosis Convex nasal ridge Prominent nose Single transverse palmar crease Thick eyebrow Short philtrum Protruding ear Postnatal growth retardation Coarse facial features Pili torti Pneumonia Therapeutic abortion Metaphyseal spurs Abnormal carotid artery morphology Hypocupremia Multiple joint dislocation Spontaneous hematomas Arterial stenosis Trichorrhexis nodosa Bladder diverticulum Aplasia/Hypoplasia of the abdominal wall musculature Chondrocalcinosis Compensated hypothyroidism


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