Cognitive impairment, and Growth hormone deficiency

Diseases related with Cognitive impairment and Growth hormone deficiency

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


Top matches:

Medium match HYPERINSULINISM DUE TO UCP2 DEFICIENCY


HyHyperinsulism due to UCP2 deficiency (HIUCP2) is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI, see this term) characterized by hypoglycemic episodes from the neonatal period, a good clinical response to diazoxide and a probable transient nature of the disease with spontaneous resolution.

HYPERINSULINISM DUE TO UCP2 DEFICIENCY Is also known as hyperinsulinemic hypoglycemia due to ucp2 deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Cognitive impairment
  • Hepatomegaly
  • Vomiting


SOURCES: ORPHANET MENDELIAN

More info about HYPERINSULINISM DUE TO UCP2 DEFICIENCY

Medium match INTELLECTUAL DISABILITY-STRABISMUS SYNDROME


Intellectual disability-strabismus syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by moderate to severe intellectual disability and esotropia. Other associated features may include growth failure (underweight, failure to thrive, short stature), microcephaly, tone abnormalities (hypotonia, spasticity), epilepsy, behavioral problems (hyperactivity, aggressiveness), and/or abnormal brain morphology, including arachnoid cyst, cerebral atrophy, mild ventriculomegaly, abnormal CNS myelination or corpus callosum agenesis.

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Microcephaly
  • Growth delay
  • Hypertelorism


SOURCES: ORPHANET OMIM MENDELIAN

More info about INTELLECTUAL DISABILITY-STRABISMUS SYNDROME

Medium match AUTOSOMAL DOMINANT HYPERINSULINISM DUE TO SUR1 DEFICIENCY


Autosomal dominant hyperinsulinism due to SUR1 deficiency is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI), characterized by hypoglycemic epiosodes that are usually mild, escaping detection during infancy and usually a good clinical response to diazoxide. Autosomal dominant hyperinsulinism due to SUR1 deficiency usually has a milder phenotype when compared to that resulting from recessive K-ATP mutations (recessive forms of Diazoxide-resistant hyperinsulinism, see this term).

AUTOSOMAL DOMINANT HYPERINSULINISM DUE TO SUR1 DEFICIENCY Is also known as autosomal dominant hyperinsulinemic hypoglycemia due to sur1 deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Microcephaly
  • Cognitive impairment
  • Hepatomegaly


SOURCES: ORPHANET MENDELIAN

More info about AUTOSOMAL DOMINANT HYPERINSULINISM DUE TO SUR1 DEFICIENCY

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Other less relevant matches:

Medium match AUTOSOMAL DOMINANT HYPERINSULINISM DUE TO KIR6.2 DEFICIENCY


Autosomal dominant hyperinsulinism due to Kir6.2 deficiency is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI) characterized by hypoglycemic epiosodes that are usually mild, escaping detection during infancy, and usually a good clinical response to diazoxide, (but some are diazoxide resistant). Autosomal dominant hyperinsulinism due to Kir6.2 deficiency usually has a milder phenotype when compared to that resulting from recessive K+ (K-ATP) channel mutations (Recessive forms of diazoxide-resistant hyperinsulinism, see this term).

AUTOSOMAL DOMINANT HYPERINSULINISM DUE TO KIR6.2 DEFICIENCY Is also known as dominant katp hyperinsulinism due to kir6.2 deficiency|autosomal dominant hyperinsulinemic hypoglycemia due to kir6.2 deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Microcephaly
  • Cognitive impairment
  • Hepatomegaly


SOURCES: ORPHANET MENDELIAN

More info about AUTOSOMAL DOMINANT HYPERINSULINISM DUE TO KIR6.2 DEFICIENCY

Medium match OLIVER-MCFARLANE SYNDROME; OMCS


Oliver-McFarlane syndrome is a rare congenital disorder characterized by trichomegaly, severe chorioretinal atrophy and multiple pituitary hormone deficiencies, including growth hormone (GH ), gonadotropins (see {118860}), and thyroid-stimulating hormone (TSH; see {118850}). Thyroid and GH abnormalities may be present at birth and, if untreated, result in intellectual impairment and profound short stature. Congenital hypogonadism occurs in half of patients, and nearly all have documented hypogonadotropic hypogonadism during puberty, with subsequent reproductive dysfunction. Chorioretinal atrophy is typically noted in the first 5 years of life. Half of reported cases have spinocerebellar involvement, including ataxia, spastic paraplegia, and peripheral neuropathy (summary by Hufnagel et al., 2015).Laurence-Moon syndrome (OMIM ) is an allelic disorder with overlapping features.

OLIVER-MCFARLANE SYNDROME; OMCS Is also known as eyelashes, long, with mental retardation|trichomegaly with mental retardation, dwarfism, and pigmentary degeneration of retina

Related symptoms:

  • Intellectual disability
  • Short stature
  • Ataxia
  • Growth delay
  • Nystagmus


SOURCES: OMIM MENDELIAN

More info about OLIVER-MCFARLANE SYNDROME; OMCS

Low match NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 1; NSLH1


Noonan syndrome-like disorder with loose anagen hair is characterized by facial features similar to those observed in Noonan syndrome (OMIM ), including hypertelorism, ptosis, downslanting palpebral fissures, low-set posteriorly angulated ears, and overfolded pinnae. In addition, patients display short stature, frequently with growth hormone (GH; see {139250}) deficiency; cognitive deficits; relative macrocephaly; small posterior fossa resulting in Chiari I malformation; hypernasal voice; cardiac defects, especially dysplasia of the mitral valve and septal defects; and ectodermal abnormalities, in which the most characteristic feature is the hair anomaly, including easily pluckable, sparse, thin, slow-growing hair (summary by Bertola et al., 2017). Genetic Heterogeneity of Noonan Syndrome-Like Disorder with Loose Anagen HairNSLH2 (OMIM ) is caused by mutation in the PPP1CB gene (OMIM ) on chromosome 2p23.

NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 1; NSLH1 Is also known as tosti syndrome|nslh

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 1; NSLH1

Low match PYCNODYSOSTOSIS


Pycnodysostosis is a genetic lysosomal disease characterized by osteosclerosis of the skeleton, short stature and brittle bones.

PYCNODYSOSTOSIS Is also known as pyknodysostosis|pycd|pknd

Related symptoms:

  • Short stature
  • Scoliosis
  • Micrognathia
  • Pain
  • Cognitive impairment


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about PYCNODYSOSTOSIS

Low match GROWTH HORMONE INSENSITIVITY WITH IMMUNODEFICIENCY


GROWTH HORMONE INSENSITIVITY WITH IMMUNODEFICIENCY Is also known as growth hormone insensitivity due to postreceptor defect|laron syndrome due to postreceptor defect

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Hearing impairment
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about GROWTH HORMONE INSENSITIVITY WITH IMMUNODEFICIENCY

Low match PSEUDOHYPOPARATHYROIDISM TYPE 1B


Pseudohypoparathyroidism type 1B (PHP-1b) is a type of pseudohypoparathyroidism (PHP; see this term) characterized by localized resistance to parathyroid hormone (PTH) mainly in the renal tissues which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels. About 60-70% of patients also present with elevated TSH levels due to TSH resistance.

PSEUDOHYPOPARATHYROIDISM TYPE 1B Is also known as php ib

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Nystagmus
  • Cataract


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about PSEUDOHYPOPARATHYROIDISM TYPE 1B

Low match WIEDEMANN-STEINER SYNDROME


Wiedemann-Steiner syndrome is a rare, genetic multiple congenital anomalies/dysmorphic syndrome characterized by short stature, hypertrichosis cubiti, facial dysmorphism (hypertelorism, long eyelashes, thick eyebrows, downslanted, vertically narrow, long palpebral fissures, wide nasal bridge, broad nasal tip, long philtrum), developmental delay, and mild to moderate intellectual disability. It has a variable clinical phenotype with additional manifestations reported including muscular hypotonia, patent ductus arteriosus, small hands and feet, hypertrichosis on the back, behavioral difficulties, and seizures.

WIEDEMANN-STEINER SYNDROME Is also known as hairy elbows, short stature, facial dysmorphism, and developmental delay|hypertrichosis-short stature-facial dysmorphism-developmental delay syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about WIEDEMANN-STEINER SYNDROME

Top 5 symptoms//phenotypes associated to Cognitive impairment and Growth hormone deficiency

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Prominent forehead Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Cognitive impairment and Growth hormone deficiency. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Failure to thrive Growth delay High forehead Microcephaly Pallor Hepatomegaly Diarrhea Progressive neurologic deterioration Obesity Brachydactyly Vomiting Delayed eruption of teeth Short toe Hyperactivity Hyperhidrosis Long eyelashes Hyperinsulinemia Abnormal facial shape Strabismus Depressed nasal bridge Hypertelorism Secondary growth hormone deficiency Large for gestational age Agitation Drowsiness Neonatal hypoglycemia Hyperinsulinemic hypoglycemia Lethargy Hypoketotic hypoglycemia Pancreatic islet-cell hyperplasia Abnormality of fatty-acid metabolism Vitamin B1 deficiency Coma Generalized hypotonia Tachycardia

Rare Symptoms - Less than 30% cases


Ptosis Low-set ears Feeding difficulties Sparse scalp hair Hypoplasia of penis Macrocephaly Downslanted palpebral fissures Short neck Delayed skeletal maturation Intrauterine growth retardation Dilatation Webbed neck Eczema Micrognathia Abnormality of the dentition Brachycephaly Blue sclerae Round face Increased bone mineral density Anxiety Abnormality of the elbow Delayed puberty Thick eyebrow Hydrocephalus Frontal bossing Hypoglycemia Hypothyroidism Severe short stature Aggressive behavior Nystagmus Telecanthus Behavioral abnormality Decreased circulating cortisol level Abnormal brain FDG positron emission tomography Epicanthus Autoimmune antibody positivity Hyperextensibility at elbow Irritability Paresthesia Pseudohypoparathyroidism Laryngeal dystonia Dyskinesia Muscle cramps Full cheeks Chest pain Aplasia/Hypoplasia of the ribs Tetany Elevated circulating parathyroid hormone level Short metacarpal Hypoplasia of dental enamel Hypocalcemia Dyspnea Reduced bone mineral density Prolonged QT interval Small forehead Hyperparathyroidism Hyperphosphatemia Calcinosis Conjunctivitis Delayed gross motor development Hyporeflexia High pitched voice Deeply set eye Progressive visual loss Microdontia Depressed nasal ridge Osteoarthritis Abnormal lung morphology Chronic diarrhea Hypohidrosis Lymphopenia Increased body weight Hypercholesterolemia Short long bone Reduced number of teeth Keratitis Truncal obesity Depressivity External genital hypoplasia Prematurely aged appearance Proportionate short stature Underdeveloped supraorbital ridges Dilatation of renal calices Concave nasal ridge Immune dysregulation Delayed menarche Aplasia/Hypoplasia involving the nose Hypoplastic nasal bridge Lymphoid interstitial pneumonia Cataract Renal insufficiency Congenital, generalized hypertrichosis Ectopic calcification Diaphyseal sclerosis Hypocalcemic seizures Tapered finger Severe global developmental delay Broad philtrum Short attention span Depressed nasal tip Narrow nose Dolichocephaly Synophrys Facial asymmetry Thin vermilion border Flat face Wide nose Hirsutism Highly arched eyebrow Short palpebral fissure Neurological speech impairment Hypertrichosis Broad-based gait Stereotypy Narrow nasal bridge Rhizomelia Short middle phalanx of finger Generalized hirsutism Finger clinodactyly Bilateral ptosis Narrow palpebral fissure Accelerated skeletal maturation Sacral dimple Infantile muscular hypotonia Abnormal corpus callosum morphology Short philtrum Myoclonic spasms Intellectual disability, mild Hypocalcemic tetany Abnormality of the hand Abdominal symptom Low urinary cyclic AMP response to PTH administration Pituitary resistance to thyroid hormone Increased bone density with cystic changes Low frustration tolerance Cortical subperiosteal resorption of humeral metaphyses Muscular hypotonia High palate Delayed speech and language development Wide nasal bridge Dysphagia Short nose Psychomotor deterioration Long philtrum Pectus excavatum Clinodactyly Asymmetry of the thorax Clinodactyly of the 5th finger Constipation Narrow mouth Gastroesophageal reflux Macrotia Thin upper lip vermilion Anteverted ears Intellectual disability, moderate Postnatal growth retardation Blepharophimosis Pneumonia Narrow palate Recurrent infections Hypertrophic cardiomyopathy Progressive gait ataxia Recurrent hypoglycemia Titubation Alopecia areata Choroideremia Long eyebrows Central heterochromia Ventricular septal defect Hypoplasia of the corpus callosum Atrial septal defect Abnormal heart morphology Posteriorly rotated ears Polyhydramnios Joint laxity Chorioretinal atrophy Abnormal cardiac septum morphology Attention deficit hyperactivity disorder Pulmonic stenosis Ichthyosis Hyperpigmentation of the skin Relative macrocephaly Nasal speech Redundant skin Arnold-Chiari type I malformation Megalencephaly Deep palmar crease Slow-growing hair Small posterior fossa Retinal atrophy Sensory axonal neuropathy Scoliosis Micropenis Ventriculomegaly Upslanted palpebral fissure Delayed myelination Esotropia Neurodevelopmental delay Ataxia Muscle weakness Cryptorchidism Peripheral neuropathy Cerebellar atrophy Alopecia Rod-cone dystrophy Hypogonadism Gait ataxia Hypogonadotrophic hypogonadism Sparse hair Distal muscle weakness Small for gestational age Spastic paraplegia Paraplegia Peripheral axonal neuropathy Retinal degeneration Distal amyotrophy Progressive cerebellar ataxia Pigmentary retinopathy Clumsiness Gynecomastia Horizontal nystagmus Loose anagen hair Pain Respiratory distress Small face Increased susceptibility to fractures Back pain Abnormality of the thorax Abnormality of dental morphology Osteomyelitis Prominent occiput Agenesis of permanent teeth Abnormality of the vertebral column Abnormality of the clavicle Osteopetrosis Osteolytic defects of the phalanges of the hand Spondylolisthesis Ridged nail Low back pain Sleep apnea Abnormal pattern of respiration Persistence of primary teeth Delayed eruption of permanent teeth Delayed eruption of primary teeth Absent frontal sinuses Snoring Spondylolysis Osteolytic defects of the distal phalanges of the hand Persistent open anterior fontanelle Abnormal pelvis bone ossification Hearing impairment Neoplasm Motor delay Abnormality of pelvic girdle bone morphology Osteolysis Anemia Carious teeth Abnormality of the skeletal system Splenomegaly Kyphosis Malar flattening Midface retrusion Osteoporosis Proptosis Skeletal dysplasia Hepatosplenomegaly Apnea Hyperlordosis Craniosynostosis Narrow chest Short distal phalanx of finger Abnormality of the fingernails Recurrent fractures Postural instability Hypodontia Hypoplasia of the maxilla Prominent nose Abnormality of the skin Small nail Abnormality of the face Abnormality of epiphysis morphology Abnormal vertebral morphology Bone pain Abnormality of the nail Wormian bones Elbow hypertrichosis



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