Intellectual disability, severe, and Umbilical hernia

Diseases related with Intellectual disability, severe and Umbilical hernia

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

Top matches:

High match THYROID ECTOPIA

Thyroid ectopia is a form of thyroid dysgenesis (see this term) characterized by an ectopic location of the thyroid gland that results in primary congenital hypothyroidism (see this term), a permanent thyroid deficiency that is present from birth.

Related symptoms:

  • Global developmental delay
  • Short stature
  • Growth delay
  • Muscle weakness
  • Muscular hypotonia


SOURCES: ORPHANET MENDELIAN

More info about THYROID ECTOPIA

Isolated thyroid-stimulating hormone (TSH) deficiency is a type of central congenital hypothyroidism (see this term), a permanent thyroid deficiency that is present from birth, characterized by low levels of thyroid hormones due to a deficiency in TSH synthesis.

ISOLATED THYROID-STIMULATING HORMONE DEFICIENCY Is also known as isolated thyrotropin deficiency|thyrotropin deficiency, isolated|pituitary cretinism|isolated tsh deficiency|tsh deficiency|thyroid-stimulating hormone deficiency

Related symptoms:

  • Generalized hypotonia
  • Muscular hypotonia
  • Feeding difficulties
  • Depressed nasal bridge
  • Fatigue


SOURCES: ORPHANET OMIM MENDELIAN

More info about ISOLATED THYROID-STIMULATING HORMONE DEFICIENCY

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

Other less relevant matches:

Resistance to thyroid-stimulating hormone (TSH; see {188540}), a hallmark of congenital nongoitrous hypothyroidism, causes increased levels of plasma TSH and low levels of thyroid hormone. Only a subset of patients develop frank hypothyroidism; the remainder are euthyroid and asymptomatic (so-called compensated hypothyroidism) and are usually detected by neonatal screening programs (Paschke and Ludgate, 1997). Genetic Heterogeneity of Congenital Nongoitrous HypothyroidismCHNG2 (OMIM ) is caused by mutation in the PAX8 gene (OMIM ) on chromosome 2q12-q14; CHNG3 (OMIM ) maps to a locus on chromosome 15q25.3; CHNG4 (OMIM ) is caused by mutation in the TSHB gene (OMIM ) on chromosome 1p13; CHNG5 (OMIM ) is caused by mutation in the NKX2-5 gene (OMIM ) on chromosome 5q34; and CHNG6 (OMIM ) is caused by mutation in the THRA gene (OMIM ) on chromosome 17q21.1.

HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1; CHNG1 Is also known as tsh resistance|hypothyroidism, congenital, due to tsh resistance|hypothyroidism, nonautoimmune|rtsh|thyrotropin resistance|hypothyroidism due to unresponsiveness to thyrotropin|thyroid-stimulating hormone, resistance to

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1; CHNG1

Mucopolysaccharidosis type VI is an autosomal recessive lysosomal storage disorder resulting from a deficiency of arylsulfatase B. Clinical features and severity are variable, but usually include short stature, hepatosplenomegaly, dysostosis multiplex, stiff joints, corneal clouding, cardiac abnormalities, and facial dysmorphism. Intelligence is usually normal (Azevedo et al., 2004).

MUCOPOLYSACCHARIDOSIS, TYPE VI; MPS6 Is also known as maroteaux-lamy syndrome|mps vi|n-acetylgalactosamine-4-sulfatase deficiency|arsb deficiency|arylsulfatase b deficiency

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Abnormal facial shape
  • Flexion contracture


SOURCES: OMIM MENDELIAN

More info about MUCOPOLYSACCHARIDOSIS, TYPE VI; MPS6

Zimmermann-Laband syndrome (ZLS) is a rare disorder characterized by gingival fibromatosis, coarse facial appearance, and absence or hypoplasia of nails or terminal phalanges of hands and feet.

ZIMMERMANN-LABAND SYNDROME Is also known as laband syndrome|gingival fibromatosis-hepatosplenomegaly-other anomalies syndrome|fibromatosis, gingival, with abnormal fingers, fingernails, nose, and ears, and splenomegaly

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about ZIMMERMANN-LABAND 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

High 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

Frank-ter Haar syndrome (formerly considered as an autosomal recessive form of Melnick-Needles syndrome; see this term) is defined by megalocornea, multiple skeletal anomalies, characteristic facial dysmorphism (wide fontanels, prominent forehead, hypertelorism, prominent eyes, full cheeks and micrognathia) and developmental delay.

FRANK-TER HAAR SYNDROME Is also known as ter haar syndrome|borrone dermatocardioskeletal syndrome|melnick-needles syndrome, autosomal recessive, formerly

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Scoliosis
  • Growth delay


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about FRANK-TER HAAR SYNDROME

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 Umbilical hernia

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Macroglossia Common - Between 50% and 80% cases
Hernia Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Hypothyroidism

Uncommon Symptoms - Between 30% and 50% cases

Coarse facial features Wide nasal bridge Abnormal facial shape Generalized hypotonia Hearing impairment Muscular hypotonia Growth delay Sensorineural hearing impairment Hypertelorism Cryptorchidism Brachydactyly Seizures Depressed nasal bridge Jaundice Inguinal hernia Low-set ears Thickened skin Constipation Large fontanelles Epicanthus Macrocephaly Abnormality of the face Micropenis Flexion contracture Intellectual disability, moderate Wide mouth Thick vermilion border Dental malocclusion Thick lower lip vermilion Broad forehead Strabismus Posteriorly rotated ears High palate Hypertension Metaphyseal widening Cataract Micrognathia Cerebral atrophy Abnormality of the skeletal system Abdominal distention Feeding difficulties Microcephaly Wide anterior fontanel Hirsutism Downslanted palpebral fissures Ventricular septal defect

Rare Symptoms - Less than 30% cases

Spastic tetraparesis Short philtrum Cardiomyopathy Splenomegaly Failure to thrive Scoliosis Progressive neurologic deterioration Kyphosis Glaucoma Abnormality of the pinna Smooth philtrum Accelerated skeletal maturation Thin vermilion border Hepatosplenomegaly Apnea Tetraparesis Aseptic necrosis Hip dysplasia Joint stiffness Corneal opacity Genu valgum Broad ribs Hemivertebrae Congestive heart failure Hypertonia Triangular mouth Pectus excavatum Osteoporosis Brachycephaly Severe global developmental delay Full cheeks Tapered finger Bowing of the long bones Postnatal growth retardation Wormian bones Kyphoscoliosis Clinodactyly Hypospadias Short nose Anteverted nares Dilatation Talipes equinovarus Spasticity Prominent occiput Protruding tongue Gingival overgrowth Intellectual disability, profound Delayed eruption of teeth Abnormality of cardiovascular system morphology Abnormal heart morphology Clinodactyly of the 5th finger Prominent forehead Protruding ear Mandibular prognathia Polydactyly Hepatomegaly Motor delay Everted lower lip vermilion Fatigue Hoarse cry Pseudohypoparathyroidism Myopia Congenital hypothyroidism Intellectual disability, progressive Feeding difficulties in infancy Omphalocele Nephrolithiasis Abnormality of the dentition Sleep disturbance Optic atrophy Abnormality of metabolism/homeostasis Malar flattening Growth abnormality Dry skin Prolonged neonatal jaundice Abnormality of the thyroid gland Wide intermamillary distance Muscle weakness Telecanthus Ectopic thyroid Hypothermia Chondrocalcinosis Bladder diverticulum Diastasis recti Hypoplasia of teeth Hyperextensible skin Intracranial hemorrhage Abnormal carotid artery morphology Mask-like facies Cerebral hemorrhage Myopathic facies Venous insufficiency Hypocupremia Aplasia/Hypoplasia of the abdominal wall musculature Multiple joint dislocation Pili torti Preaxial foot polydactyly Osteomyelitis Trichorrhexis nodosa Opisthotonus Rectovaginal fistula Tarsal synostosis Hypopigmentation of hair Abnormality of lipid metabolism Spontaneous hematomas Arterial stenosis Exostoses Hypopigmentation of the fundus Woolly hair Atypical scarring of skin Anterior concavity of thoracic vertebrae Abnormal pulmonary valve morphology Joint laxity Joint hyperflexibility Narrow chest Nausea and vomiting Malabsorption Sparse hair Developmental regression Hypoglycemia Hypopigmentation of the skin Intracranial cystic lesion Dementia Behavioral abnormality Diarrhea Cerebellar atrophy Intrauterine growth retardation Dysarthria Neurodegeneration Recurrent fractures Coarse hair Chronic diarrhea Cerebral hypoplasia Abnormal palate morphology Duplication of phalanx of hallux Metaphyseal spurs Shock Cutis laxa Joint dislocation Bifid distal phalanx of the thumb Sepsis Abnormality of the metaphysis Choreoathetosis Sparse scalp hair Fine hair Generalized-onset seizure Gastrointestinal hemorrhage Chorea Duplication of thumb phalanx Anencephaly Therapeutic abortion Anal atresia Buphthalmos Concave nasal ridge Abnormal cardiac septum morphology Beaking of vertebral bodies Abnormally large globe Finger syndactyly Toe syndactyly Double outlet right ventricle Retrognathia Cleft upper lip Premature loss of teeth Megalocornea Postaxial polydactyly Congenital glaucoma Delayed cranial suture closure Flared metaphysis Retinal dystrophy Coloboma Anterior segment developmental abnormality Tricuspid regurgitation Frontal bossing Serpentine fibula Prominent coccyx Broad clavicles Multiple skeletal anomalies Ataxia Nystagmus Cleft palate Hyperplasia of the maxilla Agenesis of corpus callosum Broad alveolar ridges Ventriculomegaly Thoracolumbar kyphosis Hypoplasia of the corpus callosum Long philtrum Syndactyly Cerebellar hypoplasia Vacuolated lymphocytes Metatarsus adductus Flat occiput Postaxial foot polydactyly Skeletal dysplasia Microretrognathia Aplasia/Hypoplasia of the corpus callosum Preaxial polydactyly Deeply set eye Preaxial hand polydactyly Diabetes insipidus Molar tooth sign on MRI Osteopenia Spontaneous abortion High forehead External genital hypoplasia Partial agenesis of the corpus callosum Proptosis Respiratory failure Abnormality of digit Cortical irregularity Arachnoid cyst Finger clinodactyly Preauricular skin tag Bifid uvula Interphalangeal joint contracture of finger Acne Cholelithiasis Short long bone Abnormality of the metacarpal bones Osteolysis Short chin Gynecomastia Short phalanx of finger Mitral valve prolapse Open mouth Broad nasal tip Single transverse palmar crease Short palm Esotropia Dandy-Walker malformation Camptodactyly of finger Postaxial hand polydactyly Camptodactyly Genu recurvatum Prominent eyelashes Hypoganglionosis Compensated hypothyroidism Retinopathy Edema Hydrocephalus Respiratory distress Abnormality of reproductive system physiology Large posterior fontanelle Thyroid dysgenesis Angiokeratoma corporis diffusum Tetraplegia Thyroid agenesis Abnormal pericardium morphology Increased thyroid-stimulating hormone level Thyroid hypoplasia Primary hypothyroidism Anterior hypopituitarism Abnormal eyelid morphology Palpebral edema Dolichocephaly Waddling gait Intestinal obstruction Abnormal heart valve morphology Disproportionate short-trunk short stature Ovoid vertebral bodies Hypoplastic iliac wing Dysostosis multiplex Obstructive sleep apnea Thoracic kyphosis Hypoplasia of the odontoid process Spinal canal stenosis Metaphyseal irregularity Spastic tetraplegia Epiphyseal dysplasia Recurrent upper respiratory tract infections Sleep apnea Opacification of the corneal stroma Aortic valve stenosis Decreased body weight Split hand Lumbar hyperlordosis Tracheoesophageal fistula Abnormality of vision Constrictive median neuropathy Proteinuria Telangiectasia Renal dysplasia Renal hypoplasia Pancytopenia Hypoplasia of penis Stage 5 chronic kidney disease Blepharophimosis Renal insufficiency Bifid scrotum Craniopharyngioma Hypothalamic hypothyroidism Narcolepsy Pituitary hypothyroidism Severe postnatal growth retardation Hypopituitarism Growth hormone deficiency Hypersomnia Abnormal dermatoglyphics Congenital sensorineural hearing impairment Goiter Oral cleft Anosmia Oligodontia Reduced tendon reflexes Abnormality of the hair Sinusitis Abnormality of epiphysis morphology Depressed nasal ridge Hypotension Paresthesia Telangiectasia of the skin Abnormality of the eye Anxiety Hypogonadism Arrhythmia Depressivity Chordee Aplasia/Hypoplasia of the nipples Hypoplastic nipples Flared iliac wings Myelopathy Hemoglobin H Flat face Coxa valga Aspiration Aganglionic megacolon Recurrent urinary tract infections Abnormality of the genital system Ambiguous genitalia Renal agenesis Microtia Infantile muscular hypotonia Irritability Hydronephrosis Gastroesophageal reflux Abdominal pain Pneumonia Midface retrusion Vomiting Dysphagia Drooling Tented upper lip vermilion Pain Hypochromic microcytic anemia Endometriosis Reduced alpha/beta synthesis ratio Widely-spaced maxillary central incisors Absent frontal sinuses U-Shaped upper lip vermilion Abnormal hemoglobin Ileus Perimembranous ventricular septal defect Decreased serum testosterone level Radial deviation of finger Volvulus Chronic constipation Facial hypotonia Male pseudohermaphroditism Shawl scrotum Microcytic anemia Hydroureter Spastic diplegia Anemia Mesiodens Retinal fold Dyspnea Short distal phalanx of finger Thick eyebrow Bulbous nose Joint hypermobility Synophrys Congenital cataract Macrotia Polyhydramnios Patent ductus arteriosus Bilateral sensorineural hearing impairment Anterior wedging of L2 Anterior wedging of L1 Hypoplastic acetabulae Dermatan sulfate excretion in urine Cervical cord compression Cervical instability Cervical myelopathy Prominent sternum Overgrowth Small nail Short distal phalanx of toe Colpocephaly Aortic arch aneurysm Everted upper lip vermilion Generalized hypertrichosis Biliary atresia Cavernous hemangioma Hyperextensibility of the finger joints Gingival fibromatosis Long penis Thin bony cortex Hypertrichosis Dystrophic fingernails Aortic root aneurysm Pericardial effusion Anonychia Large for gestational age Hemangioma Spina bifida occulta Generalized hirsutism Pulmonary valve defects


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