Intellectual disability, severe, and Full cheeks

Diseases related with Intellectual disability, severe and Full cheeks

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

Top matches:

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

Temple-Baraitser syndrome is a rare developmental anomalies syndrome characterized by severe intellectual disability and distal hypoplasia of digits, particularly of thumbs and halluces, with nail aplasia or hypoplasia. Facial dysmorphism with a pseudo-myopathic appearance has been reported, which may include high anterior hairline or low frontal hairline with central cowlick, flat forehead, ptosis, hypertelorism, downslanting palpebral fissures, epicanthal folds, ears with thick helices, broad depressed nasal bridge with anteverted nares, short columella, long philtrum, high-arched palate, broad mouth with thick vermilion border of the upper or the lower lip and downturned corners. Marked hypotonia, seizures and global developmental delay have been reported, associated with autistic spectrum disorder manifestations in some patients.

TEMPLE-BARAITSER SYNDROME Is also known as severe intellectual disability-aplasia/hypoplasia of thumb and hallux syndrome|mental retardation, severe, and absent nails of hallux and pollex|tmbts

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about TEMPLE-BARAITSER SYNDROME

High match PEHO SYNDROME

PEHO (Progressive encephalopathy with Edema, Hypsarrhythmia and Optic atrophy) syndrome is a rare neurodegenerative disorder belonging to the group of infantile progressive encephalopathies.

PEHO SYNDROME Is also known as progressive encephalopathy-optic atrophy syndrome|progressive encephalopathy with edema, hypsarrhythmia and optic atrophy|progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy|infantile cerebellooptic atrophy

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about PEHO SYNDROME

Other less relevant matches:

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

Borjeson-Forssman-Lehmann syndrome (BFLS) is a rare X-linked obesity syndrome characterized by intellectual deficit, truncal obesity, characteristic facial features, hypogonadism, tapered fingers and short toes.

BORJESON-FORSSMAN-LEHMANN SYNDROME Is also known as mental retardation, x-linked, syndromic, borjeson-forssman-lehmann type|bfls|intellectual disability-epilepsy-endocrine disorders syndrome|borjeson syndrome|mrxsbfl|mental retardation, epilepsy, and endocrine disorders|borj

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about BORJESON-FORSSMAN-LEHMANN SYNDROME

Crisponi/cold-induced sweating syndrome is an autosomal recessive disorder characterized in the neonatal period by orofacial weakness with impaired sucking and swallowing resulting in poor feeding necessitating medical intervention. Affected infants show a tendency to startle, with contractions of the facial muscles in response to tactile stimuli or during crying, trismus, abundant salivation, and opisthotonus. During the first year, most infants have spiking fevers. These features, referred to as 'Crisponi syndrome' in infancy, can result in early death without advanced care. After the first 2 years, the abnormal muscle contractions and fevers abate, and most patients show normal psychomotor development. From childhood onward, the most disabling symptoms stem from impaired thermoregulation and disabling abnormal sweating, which can be treated with clonidine. Patients have hyperhidrosis, mainly of the upper body, in response to cold temperatures, and sweat very little with heat. Other features include characteristic facial anomalies, such as round face, chubby cheeks, micrognathia, high-arched palate, low-set ears, and depressed nasal bridge, dental decay, camptodactyly, and progressive kyphoscoliosis (summary by Hahn et al., 2010). Genetic Heterogeneity of Crisponi/Cold-Induced Sweating SyndromeCrisponi/cold-induced sweating syndrome-2 (CISS2 ), which is clinically indistinguishable from CISS1, is caused by mutation in the CLCF1 gene (OMIM ) on chromosome 11q13. CISS3 (OMIM ) is caused by mutation in the KLHL7 gene (OMIM ) on chromosome 7p15.

CRISPONI/COLD-INDUCED SWEATING SYNDROME 1; CISS1 Is also known as crisponi syndrome|sohar-crisponi syndrome|muscle contractions, tetanoform, with characteristic face, camptodactyly, hyperthermia, and sudden death

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Scoliosis
  • Micrognathia


SOURCES: MESH OMIM MENDELIAN

More info about CRISPONI/COLD-INDUCED SWEATING SYNDROME 1; CISS1

Genitopatellar syndrome is a rare congenital patellar anomaly syndrome characterized by patellar aplasia or hypoplasia associated with microcephaly, characteristic coarse facial features (microcephaly, bitemporal narrowing, large, broad nose with high nasal bridge, prominent cheeks and micro/retrognathia or prognathism), arthrogryposis of the hips and knees, urogenital abnormalities and intellectual deficiency.

GENITOPATELLAR SYNDROME Is also known as absent patellae-scrotal hypoplasia-renal anomalies-facial dysmorphism-intellectual disability syndrome|absent patellae, scrotal hypoplasia, renal anomalies, facial dysmorphism, and mental retardation

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about GENITOPATELLAR SYNDROME

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

Intellectual disability-sparse hair-brachydactyly syndrome is a very rare condition of unknown etiology consisting of short stature, hypotrichosis, brachydactyly with cone-shaped epiphyses, epilepsy and severe mental delay. After the initial delineation of this syndrome by Nicolaides and Baraitser in 1993, only five more patients were published in the literature up to now.

INTELLECTUAL DISABILITY-SPARSE HAIR-BRACHYDACTYLY SYNDROME Is also known as sparse hair and mental retardation|nbs|nicolaides-baraitser syndrome

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about INTELLECTUAL DISABILITY-SPARSE HAIR-BRACHYDACTYLY SYNDROME

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

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

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Global developmental delay Very Common - Between 80% and 100% cases
Seizures Very Common - Between 80% and 100% cases
Cryptorchidism Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Microcephaly

Uncommon Symptoms - Between 30% and 50% cases

Short stature

Common Symptoms - More than 50% cases

Micrognathia

Uncommon Symptoms - Between 30% and 50% cases

Growth delay Tapered finger Long philtrum Downslanted palpebral fissures Abnormal facial shape Anteverted nares Feeding difficulties Muscular hypotonia Delayed puberty Talipes equinovarus Downturned corners of mouth Sparse hair Scoliosis Wide nose Hearing impairment Kyphoscoliosis Depressed nasal bridge Absent speech Macrotia Coarse facial features Flexion contracture Hypoplasia of the corpus callosum Feeding difficulties in infancy Short palm Spasticity Osteoporosis High palate Wide nasal bridge Brachycephaly Malar flattening Cerebral atrophy EEG abnormality Wide mouth Micropenis Thick vermilion border Obesity Open mouth Hypertonia Cleft palate Low-set ears Hernia Narrow forehead Ventriculomegaly Delayed speech and language development Hypertelorism Severe global developmental delay Short phalanx of finger Hypothyroidism Sparse scalp hair Small for gestational age Kyphosis Round face Failure to thrive Fine hair Pectus excavatum Deeply set eye Intrauterine growth retardation Broad nasal tip Abnormality of cardiovascular system morphology Brachydactyly Blepharophimosis Epicanthus

Rare Symptoms - Less than 30% cases

Abnormal palate morphology Epileptic spasms Retrognathia Mandibular prognathia Polyhydramnios Progressive microcephaly Apnea Abnormality of the pinna Arthrogryposis multiplex congenita Gingival overgrowth Intellectual disability, profound Camptodactyly Abnormality of the metacarpal bones Thick eyebrow Limitation of joint mobility Bowing of the long bones Strabismus Thickened skin Hypoglycemia Thin vermilion border Attention deficit hyperactivity disorder Hypoplasia of penis Tetraparesis Smooth philtrum Aggressive behavior Spastic tetraparesis Widely spaced teeth Drooling External genital hypoplasia Large earlobe Wormian bones Autism Scrotal hypoplasia Narrow palpebral fissure Hypogonadism Hypospadias Gynecomastia Heterotopia Abnormality of the skeletal system Poor speech Nystagmus Joint dislocation Highly arched eyebrow Recurrent urinary tract infections Umbilical hernia Ventricular septal defect Short columella Myopathic facies Adducted thumb Intellectual disability, progressive Low anterior hairline Prominent nose Short neck Ptosis Ketoacidosis Motor delay Abnormal heart morphology Beaking of vertebral bodies Delayed eruption of teeth Narrow mouth Gait ataxia Diabetes mellitus Delayed skeletal maturation Dysarthria Sensorineural hearing impairment Thick nasal alae Wide intermamillary distance Opisthotonus Hyperreflexia Generalized-onset seizure Interphalangeal joint contracture of finger Short nose Cerebellar atrophy Joint hyperflexibility Inguinal hernia Edema Malabsorption Hypopigmentation of hair Hypoplastic ilia Patellar aplasia Nausea and vomiting Colpocephaly Narrow chest Labial hypoplasia Prolonged neonatal jaundice Abnormality of lipid metabolism Tarsal synostosis Prominent occiput Osteomyelitis Developmental regression Hip contracture Hypoplastic labia majora Clitoral hypertrophy Joint laxity Aplasia/Hypoplasia of the abdominal wall musculature Radioulnar synostosis Chondrocalcinosis Pili torti Woolly hair Bilateral talipes equinovarus Exostoses Ectopic kidney Hypothermia Atypical scarring of skin Anteriorly placed anus Primary hypothyroidism Patellar dislocation Patellar hypoplasia Cerebral hemorrhage Dementia Choreoathetosis Absent scrotum Chronic diarrhea Enlarged labia minora Abnormality of the face Fatigue Scrotal hypospadias Abnormality of the metaphysis Progressive neurologic deterioration Tongue thrusting Gastrointestinal hemorrhage Hypoplastic inferior pubic rami Chorea Sepsis Recurrent fractures Hypopigmentation of the skin Neurodegeneration Small scrotum Cutis laxa Muscle weakness Coarse hair Mask-like facies Calcaneovalgus deformity Metaphyseal widening Intracranial hemorrhage Hypoplastic ischia Clitoral hypoplasia Hyperextensible skin Jaundice Diarrhea Talipes calcaneovalgus Periventricular gray matter heterotopia Abnormal bone structure Shock Dilatation Behavioral abnormality Dry skin Bladder diverticulum Long eyelashes Trichorrhexis nodosa Broad forehead Osteolysis Short chin Wide anterior fontanel Mitral valve prolapse Hip dysplasia Dental malocclusion Single transverse palmar crease Hirsutism Genu valgum Corneal opacity Short philtrum Cholelithiasis Camptodactyly of finger Joint stiffness Protruding ear Skeletal dysplasia Osteopenia High forehead Proptosis Respiratory failure Glaucoma Prominent forehead Clinodactyly of the 5th finger Short long bone Acne Prominent proximal interphalangeal joints Buphthalmos Cortical irregularity Serpentine fibula Prominent coccyx Broad clavicles Multiple skeletal anomalies Hyperplasia of the maxilla Broad alveolar ridges Thoracolumbar kyphosis Vacuolated lymphocytes Anterior segment developmental abnormality Concave nasal ridge Flat occiput Abnormally large globe Genu recurvatum Double outlet right ventricle Premature loss of teeth Megalocornea Aseptic necrosis Congenital glaucoma Delayed cranial suture closure Flared metaphysis Metatarsus adductus Tricuspid regurgitation Congestive heart failure Unilateral narrow palpebral fissure Venous insufficiency Synophrys Broad-based gait Short palpebral fissure Thick lower lip vermilion Status epilepticus Eczema Specific learning disability Short metacarpal Triangular face Everted lower lip vermilion High, narrow palate Hypotrichosis Abnormality of epiphysis morphology Autistic behavior Postnatal growth retardation Severe short stature Alopecia Therapeutic abortion Metaphyseal spurs Abnormal carotid artery morphology Hypocupremia Multiple joint dislocation Spontaneous hematomas Arterial stenosis Abnormality of the genitourinary system Absence seizures Prominent interphalangeal joints Abnormal hair pattern Prominent eyelashes Curly eyelashes Clubbing of toes Excessive wrinkled skin Broad distal phalanx of finger Eclabion Wide nasal base Broad columella Enlarged joints Broad philtrum Abnormality of the testis Echolalia Accelerated skeletal maturation Abnormality of finger Protruding tongue Narrow nasal bridge Dysphasia Aphasia Absent eyebrow Cone-shaped epiphysis Overfolded helix Short metatarsal Mutism Sandal gap Laryngomalacia Dyspnea Multicystic kidney dysplasia Hypsarrhythmia Palpebral edema Drowsiness Atrophy/Degeneration affecting the brainstem Biparietal narrowing Infantile spasms Tented upper lip vermilion Infantile muscular hypotonia Severe muscular hypotonia Pachygyria Neuronal loss in central nervous system Progressive encephalopathy Brain atrophy Polymicrogyria Abnormality of movement Abnormality of eye movement Abnormality of the eye Cerebral cortical atrophy Myoclonus Recurrent respiratory infections Cerebellar hypoplasia External ear malformation Edema of the lower limbs Encephalopathy Hyperactivity Sloping forehead Growth hormone deficiency Inability to walk Long face Lactic acidosis Cleft lip Muscular hypotonia of the trunk Difficulty walking Acidosis Babinski sign Developmental stagnation Myopia Undetectable visual evoked potentials Peripheral dysmyelination Edema of the dorsum of feet Edema of the dorsum of hands Abnormality of upper lip Peripheral edema Infantile encephalopathy Porencephalic cyst Periventricular leukomalacia Visual loss Midface retrusion Pancreatitis Oligodontia Prominent superficial veins Maternal diabetes Down-sloping shoulders High pitched voice Brisk reflexes Polyuria Hyperglycemia Hypoplasia of the brainstem Polydipsia Type I diabetes mellitus Kinetic tremor Truncal ataxia Abnormal vertebral morphology Renal hypoplasia Blue sclerae Hypotelorism Delayed myelination Dysmetria Hyperlordosis Tremor Recurrent hypoglycemia Increased vertebral height Blindness Small thenar eminence Hydrocephalus Optic atrophy Hypoplastic thumbnail Absent nail of hallux Pseudoepiphysis of the thumb Tented philtrum Flat forehead Pseudoepiphyses Frontal upsweep of hair High anterior hairline Neonatal hypotonia Low hanging columella Poor eye contact Global brain atrophy Anonychia Broad hallux Short thumb Broad thumb Small nail Short distal phalanx of finger Generalized tonic-clonic seizures Lower limb spasticity Agitation Knee flexion contracture Nasal speech Narrow nose Malignant hyperthermia Episodic fever Acute kidney injury Limited elbow extension Disproportionate tall stature Overlapping toe Keratitis Radial deviation of finger Elbow flexion contracture Central apnea Hypohidrosis Dehydration Cyanosis Underdeveloped nasal alae Sudden cardiac death Falls Carious teeth Dolichocephaly Irritability Trismus Large face Pes planus Agenesis of corpus callosum Congenital hip dislocation Ectodermal dysplasia Pulmonary hypoplasia Talipes Prominent nasal bridge Abnormality of the kidney Hydronephrosis Gastroesophageal reflux Upslanted palpebral fissure Patent ductus arteriosus Velopharyngeal insufficiency Atrial septal defect Dysphagia Cold-induced sweating Facial tics Smooth tongue Hypernatremic dehydration Bilateral camptodactyly Unexplained fevers Hypopnea Temperature instability Facial palsy Hyperhidrosis Depressed nasal tip Hypermetropia Hammertoe Prominent supraorbital ridges Hypergonadotropic hypogonadism Short toe Hyperpigmentation of the skin Hypertrichosis Amenorrhea Decreased testicular size Oral cleft Intellectual disability, moderate Truncal obesity Abnormality of the dentition Macrocephaly Skeletal muscle atrophy Peripheral neuropathy Visual impairment Cataract Tall chin Birth length less than 3rd percentile Abdominal obesity Male hypogonadism Abnormality of neuronal migration Abnormality of the hip bone Hyporeflexia Widely spaced toes Clinodactyly Renal insufficiency Respiratory distress Respiratory insufficiency Fever Cognitive impairment Pain Scheuermann-like vertebral changes Hypoplasia of the prostate Cervical spinal canal stenosis Thickened calvaria Shortening of all middle phalanges of the fingers Moderately short stature Diabetic ketoacidosis Long ear Camptodactyly of toe Shortening of all distal phalanges of the fingers Short 5th finger Broad neck Broad foot Hypopituitarism Anterior concavity of thoracic vertebrae


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Dysarthria and Joint laxity, related diseases and genetic alterations