Hypertelorism, and Intellectual disability, profound

Diseases related with Hypertelorism and Intellectual disability, profound

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

Top matches:

X-linked intellectual disability, Stocco Dos Santos type is characterised by severe intellectual deficit with hyperactivity, language delay, congenital hip luxation, short stature, kyphosis and recurrent respiratory infections. Aggressive behaviour and frequent epileptic seizures may also be present. The syndrome has been described in four boys from the same family. Transmission is X-linked and is caused by mutations in the KIAA1202 gene, localised to the Xp11.2 region.

X-LINKED INTELLECTUAL DISABILITY, STOCCO DOS SANTOS TYPE Is also known as mental retardation, x-linked, stocco dos santos type

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY, STOCCO DOS SANTOS TYPE

Lissencephaly syndrome, Norman-Roberts type is characterised by the association of lissencephaly type I with craniofacial anomalies (severe microcephaly, a low sloping forehead, a broad and prominent nasal bridge and widely set eyes) and postnatal growth retardation.

LISSENCEPHALY SYNDROME, NORMAN-ROBERTS TYPE Is also known as norman-roberts syndrome|lissencephaly syndrome, norman-roberts type|microlissencephaly type a

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about LISSENCEPHALY SYNDROME, NORMAN-ROBERTS TYPE

FG syndrome-4 is an X-linked recessive mental retardation syndrome characterized by congenital hypotonia, constipation, behavioral disturbances, and dysmorphic features (summary by Piluso et al., 2003).The name 'FG' derives from the first description of the disorder (FGS1 ) by Opitz and Kaveggia (1974), who named it 'FG syndrome' according to the Opitz system of using initials of patients' surnames. For a phenotypic description and a discussion of genetic heterogeneity of FG syndrome, see FGS1 (OMIM ).FGS4 is typically associated with missense or hypomorphic mutations in the CASK gene. See also the more severe disorder MICPCH (OMIM ), an allelic disorder caused by complete loss-of-function mutations in the CASK gene (Tarpey et al., 2009).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about FG SYNDROME 4; FGS4

Other less relevant matches:

Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome is characterized by megalencephaly, polymicrogyria, and hydrocephalus with variable polydactyly. It has been described in six unrelated patients. Intellectual deficit or slow development is also present. The mode of inheritance of this syndrome is unknown since all cases were sporadic.

MEGALENCEPHALY-POLYMICROGYRIA-POSTAXIAL POLYDACTYLY-HYDROCEPHALUS SYNDROME Is also known as meg-pmg-megacc syndrome|mpph syndrome|megalencephaly, polymicrogyria, mega corpus callosum syndrome|mpph|megalencephaly, mega corpus callosum, and complete lack of motor development

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about MEGALENCEPHALY-POLYMICROGYRIA-POSTAXIAL POLYDACTYLY-HYDROCEPHALUS SYNDROME

Hartsfield syndrome is a rare, genetic, developmental defect during embryogenesis malformation syndrome characterized by the association of variable degrees of holoprosencephaly and uni- or bilateral ectrodactyly of the hands and/or feet. Additional variable features, including facial dysmorphism (e.g. hypertelorism, short bulbous nose, long philtrum, dysplastic/low-set ears, cleft lip and palate, tented upper lip), other brain malformations (such as corpus callosum agenesis, absent septum pellucidum, absent olfactory bulbs/tracts, vermian hypoplasia), pituitary gland-related endocrine disorders (e.g. central diabetes insipidus, hypogonadotropic hypogonadism) and hypothalamic dysfunction, may be associated.

HARTSFIELD SYNDROME Is also known as holoprosencephaly-ectrodactyly-cleft lip/palate syndrome|holoprosencephaly, ectrodactyly, and bilateral cleft lip/palate

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Microcephaly
  • Growth delay
  • Hypertelorism


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about HARTSFIELD SYNDROME

AUTOSOMAL RECESSIVE CUTIS LAXA TYPE 2, CLASSIC TYPE Is also known as arcl2, classic type|arcl2, debrÉ type|autosomal recessive cutis laxa type 2, debrÉ type

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Hypertelorism
  • Failure to thrive


SOURCES: ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE CUTIS LAXA TYPE 2, CLASSIC TYPE

Congenital intrauterine infection-like syndrome is characterised by the presence of microcephaly and intracranial calcifications at birth accompanied by neurological delay, seizures and a clinical course similar to that seen in patients after intrauterine infection with Toxoplasma gondii, Rubella, Cytomegalovirus, Herpes simplex (so-called TORCH syndrome), or other agents, despite repeated tests revealing the absence of any known infectious agent.

CONGENITAL INTRAUTERINE INFECTION-LIKE SYNDROME Is also known as baraitser-reardon syndrome|bilateral band-like calcification with polymicrogyria|blc-pmg|blcpmg|band-like calcification with simplified gyration and polymicrogyria|microcephaly-intracranial calcification-intellectual disability syndrome|pseudo-torch syndr

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about CONGENITAL INTRAUTERINE INFECTION-LIKE SYNDROME

Atelosteogenesis I is a perinatally lethal skeletal dysplasia characterized by severe short-limbed dwarfism, joint dislocations, club feet along with distinctive facies and radiographic findings.

ATELOSTEOGENESIS TYPE I Is also known as mecp2 duplication syndrome|aoi|giant cell chondrodysplasia|mental retardation, x-linked, with recurrent respiratory infections|spondylo-humero-femoral dysplasia|atelosteogenesis type 1|mental retardation, x-linked, syndromic, lubs type|ao1

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about ATELOSTEOGENESIS TYPE I

Acromesomelic dysplasia, Grebe type is an autosomal recessively inherited form of acromesomelic dysplasia (see this term) characterized by severe dwarfism at birth, abnormalities confined to limbs, severe shortening and deformity of long bones, fusion or absence of carpal and tarsal bones, ball shaped fingers and, occasionally, polydactyly and absent joints. As seen in acromesomelic dysplasia, Hunter-Thomson type and acromesomelic dysplasia, Maroteaux Type (see these terms), facial features and intelligence are normal.

ACROMESOMELIC DYSPLASIA, GREBE TYPE Is also known as fumaric aciduria|chondrodysplasia, grebe type

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about ACROMESOMELIC DYSPLASIA, GREBE TYPE

Freeman-Sheldon syndrome (FSS), or DA2A, is phenotypically similar to DA1. In addition to contractures of the hands and feet, FSS is characterized by oropharyngeal abnormalities, scoliosis, and a distinctive face that includes a very small oral orifice (often only a few millimeters in diameter at birth), puckered lips, and an H-shaped dimple of the chin; hence, FSS has been called 'whistling face syndrome.' The limb phenotypes of DA1 and FSS may be so similar that they can only be distinguished by the differences in facial morphology (summary by Bamshad et al., 2009).For a general phenotypic description and a discussion of genetic heterogeneity of distal arthrogryposis, see DA1 (OMIM ).

ARTHROGRYPOSIS, DISTAL, TYPE 2A; DA2A Is also known as craniocarpotarsal dysplasia|fss|craniocarpotarsal dystrophy|whistling face-windmill vane hand syndrome|freeman-sheldon syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM MENDELIAN

More info about ARTHROGRYPOSIS, DISTAL, TYPE 2A; DA2A

Top 5 symptoms//phenotypes associated to Hypertelorism and Intellectual disability, profound

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

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Depressed nasal bridge

Uncommon Symptoms - Between 30% and 50% cases

Pachygyria Failure to thrive High palate Long philtrum Macrocephaly Abnormal facial shape Lissencephaly Cerebellar hypoplasia Polymicrogyria Low-set ears Short stature Intellectual disability, severe Strabismus Scoliosis Ventriculomegaly Hypoplasia of the brainstem Visual impairment Micrognathia Ptosis Wide nasal bridge Narrow mouth Spasticity Malar flattening Epicanthus Short nose Anteverted nares Absent speech Prominent forehead Telecanthus Downslanted palpebral fissures Postnatal growth retardation Cryptorchidism Agenesis of corpus callosum Growth delay Nystagmus Hypertonia Muscular hypotonia of the trunk

Rare Symptoms - Less than 30% cases

Optic nerve hypoplasia Infantile muscular hypotonia Intrauterine growth retardation Inguinal hernia Relative macrocephaly Microphthalmia Respiratory insufficiency Psychomotor deterioration Knee flexion contracture Motor delay Postaxial hand polydactyly Fever Frontal bossing Ventricular septal defect Neonatal hypotonia Poor speech Severe global developmental delay Micropenis Delayed speech and language development Kyphosis Short foot Hip dislocation Bruxism Gastroesophageal reflux Hyperreflexia Status epilepticus Hypoplasia of the corpus callosum Atrial septal defect Cerebellar atrophy Hyperactivity Generalized-onset seizure Sloping forehead Constipation Hearing impairment Midface retrusion Myopathy Short neck Cavum septum pellucidum Talipes equinovarus Thick cerebral cortex Poor head control Encephalopathy Progressive spasticity Muscular hypotonia Neoplasm Poor eye contact Central hypotonia Hypoventilation Cerebral atrophy Facial hypotonia Chronic constipation Central hypoventilation Polyhydramnios Brachydactyly Optic atrophy Acidosis Hostility Infantile axial hypotonia Hypothyroidism Myotonia Dysphagia Pneumonia Patent ductus arteriosus Depressivity Abnormality of metabolism/homeostasis Recurrent infections Abnormality of the dentition Ataxia Brachycephaly Congenital microcephaly Increased CSF protein Petechiae Spastic tetraparesis Purpura Microretrognathia Opacification of the corneal stroma Recurrent respiratory infections Autism Premature ovarian insufficiency Aganglionic megacolon Tented upper lip vermilion Drooling Severe muscular hypotonia Aspiration Stereotypy Lower limb spasticity Chorea Pallor Neurodegeneration Autistic behavior Respiratory tract infection Developmental regression Anxiety Rigidity Macrotia Skeletal dysplasia Shoulder flexion contracture Joint stiffness Arthrogryposis multiplex congenita Joint contracture of the hand Abnormality of the skin Underdeveloped nasal alae Dental malocclusion Flat face Talipes Small for gestational age Adducted thumb Whistling appearance Blepharophimosis Camptodactyly Arthritis Deeply set eye Kyphoscoliosis Spina bifida occulta Nasal speech Glaucoma Malignant hyperthermia Abnormal auditory evoked potentials Flexion contracture of toe Overbite Dimple chin Breech presentation Trismus Distal arthrogryposis Pterygium Atrophy/Degeneration affecting the brainstem Hip contracture Mask-like facies Rocker bottom foot Congenital contracture Rheumatoid arthritis Mandibular prognathia Flexion contracture Neurological speech impairment Bowing of the long bones Sarcoma Disproportionate short-limb short stature Hyperammonemia Aminoaciduria Hyperbilirubinemia Short toe Cholestasis Reduced subcutaneous adipose tissue Aciduria Abdominal distention Metabolic acidosis Hepatic failure Lactic acidosis Micromelia Abnormality of the coagulation cascade Tarsal synostosis Muscle weakness Infantile encephalopathy Open operculum Aplasia of the middle phalanges of the toes Cutaneous leiomyoma Mitochondrial encephalopathy Choroid plexus cyst Aplasia/Hypoplasia involving the metacarpal bones Decreased liver function Aplasia/Hypoplasia of the thumb Enterocolitis Organic aciduria Short tibia Synostosis of carpal bones Ulnar deviation of the hand or of fingers of the hand Fibular hypoplasia Polycythemia Cerebral visual impairment Emphysema Postnatal microcephaly Hypospadias Infantile spasms Long palpebral fissure Thoracic scoliosis Megalencephaly Abnormally large globe Dilation of lateral ventricles Abnormal localization of kidney Abnormal nasal morphology Capillary malformation Vascular ring Thick corpus callosum Cleft palate Syndactyly Posteriorly rotated ears Large for gestational age Hypogonadism Cleft lip Low-set, posteriorly rotated ears Protruding ear Craniosynostosis Cleft upper lip Oral cleft Wide nose Ectodermal dysplasia Hypotelorism Split hand Encephalocele Holoprosencephaly Cutaneous syndactyly Cortical dysplasia Mitral regurgitation Diabetes insipidus Behavioral abnormality Pain Hirsutism Small hand Myopia Prominent nasal bridge Lymphedema Prominent occiput Severe postnatal growth retardation Colpocephaly Type I lissencephaly Bitemporal hollowing Sensorineural hearing impairment Tremor Intellectual disability, mild Postaxial polydactyly Upslanted palpebral fissure Reduced visual acuity Aggressive behavior Feeding difficulties in infancy Unsteady gait Bilateral sensorineural hearing impairment Open mouth Frontal upsweep of hair Skeletal muscle atrophy Hydrocephalus Blindness Polydactyly High forehead Abnormal cardiac septum morphology Aplasia/Hypoplasia of the corpus callosum Non-midline cleft lip Tetraparesis Thrombocytopenia Prominent nasolabial fold Prominent veins on trunk Abnormal subcutaneous fat tissue distribution Abnormality of the intrinsic pathway Fragmented elastic fibers in the dermis Subretinal pigment epithelium hemorrhage Abnormal apolipoprotein level Cataract Anemia Hepatomegaly Cardiomyopathy Splenomegaly Renal insufficiency Cerebral cortical atrophy Excessive wrinkled skin Jaundice Hepatosplenomegaly Elevated hepatic transaminase Hypertrophic cardiomyopathy Abnormality of the liver Skin rash Corneal opacity Generalized tonic-clonic seizures Congenital cataract Abnormality of movement Tetraplegia Gliosis Neuronal loss in central nervous system Cerebral calcification Abnormal isoelectric focusing of serum transferrin Thick hair Abnormality of digit Dementia Absent septum pellucidum Ectrodactyly Aplasia/Hypoplasia of the radius Megalocornea Gonadotropin deficiency Central diabetes insipidus Long hallux Semilobar holoprosencephaly Hypernatremia Duplication of thumb phalanx Hypoplasia of the frontal bone Lobar holoprosencephaly Feeding difficulties Sparse hair Delayed closure of the anterior fontanelle Carious teeth Smooth philtrum Broad nasal tip Dandy-Walker malformation High myopia Progressive microcephaly Congenital hip dislocation Cutis laxa Coarse hair Redundant skin Lipodystrophy Decreased muscle mass Generalized joint laxity Redundant neck skin Chin with H-shaped crease


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Myopia and Generalized seizures, related diseases and genetic alterations Myopia and Deeply set eye, related diseases and genetic alterations Edema and Choanal atresia, related diseases and genetic alterations Visual impairment and Talipes equinovarus, related diseases and genetic alterations Hypertelorism and Thin skin, related diseases and genetic alterations