Intellectual disability, severe, and Proptosis

Diseases related with Intellectual disability, severe and Proptosis

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


Top matches:

High match MICROCEPHALY 5, PRIMARY, AUTOSOMAL RECESSIVE; MCPH5


Autosomal recessive primary microcephaly-5 (MCPH5) is characterized by decreased occipitofrontal circumference (OFC), usually less than 3 standard deviations (SD) of the mean, present at birth and associated with mental retardation and speech delay. Other features may include short stature or mild seizures. MCPH5 is associated with a simplification of the cerebral cortical gyral pattern in some cases, which is considered within the phenotypic spectrum of primary microcephaly (review by Woods et al., 2005; Saadi et al., 2009; Passemard et al., 2009).For a general phenotypic description and a discussion of genetic heterogeneity of primary microcephaly (MCPH), see MCPH1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Hearing impairment
  • Microcephaly


SOURCES: OMIM MESH MENDELIAN

More info about MICROCEPHALY 5, PRIMARY, AUTOSOMAL RECESSIVE; MCPH5

High match NDE1-RELATED MICROHYDRANENCEPHALY


NDE1-related microhydranencephaly is a rare, hereditary syndrome with a central nervous system malformation as major feature characterized by extreme microcephaly and growth restriction, severe motor delay and mental retardation, and typical radiological findings of gross dilation of the ventricles resulting from the absence (or severe delay in the development) of cerebral hemispheres, hypoplasia of the corpus callosum, cerebellum, and brainstem. Associated features are thin bones and scalp rugae.

NDE1-RELATED MICROHYDRANENCEPHALY Is also known as hydranencephaly and microcephaly|mhac

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about NDE1-RELATED MICROHYDRANENCEPHALY

High match KEPPEN-LUBINSKY SYNDROME


Keppen-Lubinsky syndrome is a very rare disorder characterized by severely delayed psychomotor development, hypertonia, hyperreflexia, generalized lipodystrophy giving an aged appearance, and distinctive dysmorphic features, including microcephaly, prominent eyes, narrow nasal bridge, and open mouth (summary by Masotti et al., 2015).

KEPPEN-LUBINSKY SYNDROME Is also known as generalized lipodystrophy-progeroid features-severe intellectual disability syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about KEPPEN-LUBINSKY SYNDROME

Mendelian

Too many results?
We can help you with your rare disease diagnosis.

Learn more

Other less relevant matches:

High match ALLAN-HERNDON-DUDLEY SYNDROME


Allan-Herndon-Dudley syndrome (AHDS) is an X-linked intellectual disability syndrome with neuromuscular involvement characterized by infantile hypotonia, muscular hypoplasia, spastic paraparesis with dystonic/athetoic movements, and severe cognitive deficiency.

ALLAN-HERNDON-DUDLEY SYNDROME Is also known as x-linked intellectual disability-hypotonia syndrome|t3 resistance|allan-herndon syndrome|triiodothyronine resistance|monocarboxylate transporter 8 deficiency|mct8 deficiency|mental retardation and muscular atrophy|mental retardation, x-linked, with hypoto

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about ALLAN-HERNDON-DUDLEY SYNDROME

High match WALKER-WARBURG SYNDROME


Walker-Warburg Syndrome (WWS) is a rare form of congenital muscular dystrophy associated with brain and eye abnormalities.

WALKER-WARBURG SYNDROME Is also known as hard syndrome|cerebroocular dysplasia-muscular dystrophy syndrome|hydrocephalus, agyria, and retinal dysplasia|walker-warburg syndrome or muscle-eye-brain disease, pomt1-related|wws|hydrocephalus-agyria-retinal dysplasia syndrome|cod-md syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about WALKER-WARBURG SYNDROME

High match PROLIDASE DEFICIENCY


Prolidase deficiency is an inherited disorder of peptide metabolism characterized by severe skin lesions, recurrent infections (involving mainly the skin and respiratory system), dysmorphic facial features, variable cognitive impairment, and splenomegaly.

PROLIDASE DEFICIENCY Is also known as hyperimidodipeptiduria

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Hypertelorism
  • Micrognathia


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about PROLIDASE DEFICIENCY

High match FILIPPI SYNDROME


Filippi syndrome is characterised by microcephaly, cutaneous syndactyly of the fingers and toes, intellectual deficit, growth retardation and a characteristic facies (high and broad nasal bridge, thin alae nasi, micrognathia and a high frontal hairline). So far, less than 25 cases have been reported. Cryptorchidism, polydactyly, and teeth and hair anomalies may also be present. Transmission is autosomal recessive.

FILIPPI SYNDROME Is also known as scott craniodigital syndrome with mental retardation|syndactyly, type i, with microcephaly and mental retardation|type 1 syndactyly-microcephaly-intellectual disability syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about FILIPPI SYNDROME

High match FRANK-TER HAAR 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

High match WOLF-HIRSCHHORN SYNDROME


Wolf-Hirschhorn syndrome (WHS) is a developmental disorder characterized by typical craniofacial features, prenatal and postnatal growth impairment, intellectual disability, severe delayed psychomotor development, seizures, and hypotonia.

WOLF-HIRSCHHORN SYNDROME Is also known as distal deletion 4p|distal monosomy 4p|telomeric deletion 4p|4p- syndrome

Related symptoms:

  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Scoliosis


SOURCES: ORPHANET MENDELIAN

More info about WOLF-HIRSCHHORN SYNDROME

High match C SYNDROME


C syndrome is a rare multiple congenital anomaly/intellectual disability syndrome characterized by trigonocephaly and metopic suture synostosis, dysmorphic facial features, short neck, skeletal anomalies, and variable intellectual disability.

C SYNDROME Is also known as opitz c trigonocephaly|trigonocephaly syndrome|trigonocephaly c syndrome|otcs|opitz trigonocephaly syndrome|opitz trigonocephaly c syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about C SYNDROME

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

Symptoms // Phenotype % cases
Global developmental delay Very Common - Between 80% and 100% cases
Intellectual disability Very Common - Between 80% and 100% cases
Microcephaly Common - Between 50% and 80% cases
Micrognathia Common - Between 50% and 80% cases
Flexion contracture Common - Between 50% and 80% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Hypertelorism

Uncommon Symptoms - Between 30% and 50% cases


Seizures

Common Symptoms - More than 50% cases


Growth delay

Uncommon Symptoms - Between 30% and 50% cases


Motor delay Muscular hypotonia Agenesis of corpus callosum Short stature Scoliosis Talipes equinovarus Hirsutism High forehead Downslanted palpebral fissures Intrauterine growth retardation High palate Short philtrum Cryptorchidism Cleft palate Bilateral single transverse palmar creases Generalized hypotonia Abnormal facial shape Spasticity Failure to thrive Wide nasal bridge Abnormality of cardiovascular system morphology Brachydactyly Delayed skeletal maturation Cerebellar hypoplasia Clinodactyly of the 5th finger Low-set ears Depressed nasal bridge Hypoplasia of the corpus callosum Ventriculomegaly Megalocornea Ventricular septal defect Prominent forehead Pectus excavatum Hearing impairment Hyperreflexia Optic atrophy Intellectual disability, profound Thin vermilion border Short chin Frontal bossing Protruding ear Ptosis Gingival overgrowth Smooth philtrum Skeletal muscle atrophy

Rare Symptoms - Less than 30% cases


Posteriorly rotated ears Low-set, posteriorly rotated ears Atrial septal defect Epicanthus Strabismus Sacral dimple Congenital diaphragmatic hernia Abnormality of the genital system Hypoplasia of the zygomatic bone Biparietal narrowing Cleft lip Aphasia Interphalangeal joint contracture of finger Paraplegia Abnormality of movement Syndactyly Abnormality of the foot Camptodactyly of finger Joint stiffness Abnormality of the pinna Neonatal hypotonia Glaucoma Hypodontia Broad alveolar ridges Concave nasal ridge Hepatomegaly Polydactyly Short nose Broad forehead Recurrent respiratory infections High anterior hairline Genu valgum Anteverted nares Arachnodactyly Abnormality of the immune system Low posterior hairline Generalized hirsutism Limitation of joint mobility Toe syndactyly Visual impairment Congestive heart failure Retinopathy Congenital glaucoma Microtia Corneal opacity Cleft upper lip Single transverse palmar crease Iris coloboma Specific learning disability Buphthalmos Kyphosis Abnormality of the skeletal system Wide mouth Osteoporosis Abnormal heart morphology Hernia Upslanted palpebral fissure Brachycephaly Oral cleft Clinodactyly Severe global developmental delay Open mouth Pachygyria Hydrocephalus Macrotia Underdeveloped nasal alae Self-mutilation Generalized amyotrophy Multiple joint contractures Prominent nasal bridge Small for gestational age Athetosis Polyhydramnios Narrow naris Thin skin Recurrent pneumonia Spastic tetraplegia Abnormally large globe Hypoplasia of the brainstem Poor head control Narrow nasal bridge Intellectual disability, progressive Hypertonia Severe hydrocephalus Muscle weakness Postnatal growth retardation Narrow forehead Nystagmus Hyporeflexia Highly arched eyebrow Dystonia Malar flattening Polymicrogyria Sloping forehead Neurological speech impairment Intellectual disability, moderate Ataxia Delayed speech and language development Short palm Cutaneous syndactyly of toes Thick vermilion border Broad columella Anteverted ears Echolalia Aplastic/hypoplastic toenail Clinodactyly of the 5th toe Congenital microcephaly Kyphoscoliosis Mandibular prognathia Coarse facial features Respiratory failure Inguinal hernia Ulnar deviation of finger Osteopenia Anal stenosis Skeletal dysplasia Postaxial foot polydactyly Camptodactyly Umbilical hernia Deeply set eye Abnormal hair pattern 2-4 toe syndactyly Frontal hirsutism Enlarged epiphyses Abnormality of the helix Hypertension Aplasia/Hypoplasia of the abdominal wall musculature Synophrys Metopic synostosis Wide nose Thick eyebrow Bulbous nose Female pseudohermaphroditism Pseudohypoaldosteronism Conotruncal defect Renal cortical cysts Finger syndactyly Microdontia Hypoplasia of the ear cartilage Right-to-left shunt Sparse hair Muscular hypotonia of the trunk Thin upper lip vermilion Severe short stature Midline facial capillary hemangioma Thick anterior alveolar ridges Abnormality of the anus Ambiguous genitalia Low hanging columella Accessory oral frenulum Narrow nose Limb hypertonia Limb dystonia Cutaneous finger syndactyly Abnormality of digit Delayed eruption of teeth Medulloblastoma Supernumerary nipple Short middle phalanx of finger Small nail Mutism Widely spaced teeth Cutaneous syndactyly Finger clinodactyly Long eyelashes Postnatal microcephaly Decreased body weight Hypertrichosis Fine hair Dysphasia Bowing of the long bones Broad nasal tip Postaxial polydactyly Chronic otitis media Abnormality of the thorax Abnormality of the urinary system Hemangioma Hip dislocation Talipes Micromelia Abnormal vertebral morphology Short thumb Short metacarpal Preaxial hand polydactyly Abnormal form of the vertebral bodies Split hand Limb undergrowth Tetralogy of Fallot Downturned corners of mouth Dolichocephaly Abnormal cardiac septum morphology Abnormality of the kidney Postaxial hand polydactyly Aplasia/Hypoplasia of the cerebellum Craniosynostosis Hypospadias Constipation Hypoplastic pubic rami Rib segmentation abnormalities Short neck Abnormality of the gallbladder Abnormal lip morphology Abnormality of the philtrum Long philtrum Patent ductus arteriosus Tethered cord Aplasia cutis congenita of scalp Disproportionate tall stature Aplasia/Hypoplasia of the nipples Abdominal situs inversus Rib fusion Short hallux Calvarial skull defect Sclerocornea Aplasia/Hypoplasia of the lungs Abnormality of the mouth Abnormality of the vertebral column Abnormal heart valve morphology Omphalocele Horseshoe kidney Full cheeks Osteolysis Delayed cranial suture closure Flared metaphysis Metatarsus adductus Tricuspid regurgitation Flat occiput Acne Cholelithiasis Short long bone Abnormality of the metacarpal bones Wormian bones Premature loss of teeth Gynecomastia Wide anterior fontanel Short phalanx of finger Dislocated radial head Thickened skin Mitral valve prolapse Hip dysplasia Abnormality of immune system physiology Dental malocclusion Aseptic necrosis Double outlet right ventricle Multicystic kidney dysplasia Renal hypoplasia/aplasia Joint dislocation Cutis laxa Aplasia/Hypoplasia of the corpus callosum Anterior concavity of thoracic vertebrae Cortical irregularity Serpentine fibula Prominent coccyx Broad clavicles Multiple skeletal anomalies Redundant skin Genu recurvatum Hyperplasia of the maxilla Failure to thrive in infancy Hand polydactyly Trigonocephaly Thoracolumbar kyphosis Vacuolated lymphocytes Anterior segment developmental abnormality Beaking of vertebral bodies Clitoral hypertrophy Radial deviation of finger Decreased fetal movement Abnormality of metabolism/homeostasis Cerebellar atrophy Choreoathetosis Myopathic facies CNS hypomyelination Drooling Type I diabetes mellitus Muscle stiffness Narrow face Clonus Leukodystrophy Involuntary movements Cerebral calcification Bowel incontinence Increased serum lactate Urinary incontinence Generalized muscle weakness Tetraplegia Inability to walk Long face Spastic paraplegia Irritability Feeding difficulties in infancy Hallux valgus Hyperactive deep tendon reflexes Pes planus Myopia Coloboma Hydronephrosis Elevated serum creatine phosphokinase Areflexia Dilatation Microphthalmia Myopathy Blindness Macrocephaly Cataract Central hypotonia Underfolded superior helices Stahl ear Abnormal conjugate eye movement Prominent antihelix Increased thyroid-stimulating hormone level Rotary nystagmus Hypoplasia of the musculature Delayed CNS myelination Abnormality of the neck Macroorchidism Abnormality of the nervous system Hypothyroidism Abnormality of the cerebral white matter Brain atrophy Febrile seizures High, narrow palate Abnormality of eye movement Dyspnea Respiratory insufficiency Hydranencephaly Profound global developmental delay Knee flexion contracture Tetraparesis Generalized myoclonic seizures Spastic tetraparesis Unilateral polymicrogyria Thick corpus callosum Small cerebral cortex Hypoplasia of the frontal lobes Prominent glabella Partial agenesis of the corpus callosum Cortical gyral simplification Cortical dysplasia Attention deficit hyperactivity disorder Hyperactivity Decreased testicular size Tented upper lip vermilion Babinski sign Absence of subcutaneous fat Absent speech Gait disturbance Dysarthria Feeding difficulties Abnormality of the forehead Narrow nasal tip Tented philtrum Loss of facial adipose tissue Congenital generalized lipodystrophy Generalized lipodystrophy Increased susceptibility to fractures Prominent nasal tip Narrow nasal ridge Dimple chin Upper airway obstruction Premature skin wrinkling Progeroid facial appearance Shallow orbits Opisthotonus Mask-like facies Lipodystrophy Muscular dystrophy Congenital cataract Recurrent cystitis Papule Cutaneous photosensitivity Hepatitis Dehydration Convex nasal ridge Asthma Palmoplantar keratoderma Dry skin Carious teeth Pruritus Skin rash Inflammatory abnormality of the skin Erythema Elevated hepatic transaminase Hepatosplenomegaly Hyperkeratosis Obesity Thrombocytopenia Recurrent infections Splenomegaly Intellectual disability, mild Diarrhea Depressed nasal ridge Abnormal lung morphology Anemia Abnormality of the hip bone Diffuse telangiectasia Crusting erythematous dermatitis Facial hirsutism Poliosis Abnormality of the middle ear White forelock Chronic lung disease Prolonged neonatal jaundice Aplasia/Hypoplasia of the skin Elevated erythrocyte sedimentation rate Abnormality of retinal pigmentation Petechiae Increased antibody level in blood Osteomyelitis Psoriasiform dermatitis Systemic lupus erythematosus Reduced bone mineral density Abnormality of the fingernails Low anterior hairline Skin ulcer Lymphedema Vomiting Abnormal aldolase level Anal atresia Lissencephaly Submucous cleft hard palate Occipital encephalocele Absent septum pellucidum Abnormality of neuronal migration Anophthalmia Congenital muscular dystrophy Congenital contracture Atresia of the external auditory canal Optic nerve hypoplasia Severe muscular hypotonia Bilateral cleft lip Renal dysplasia Heterotopia Encephalocele Cerebellar vermis hypoplasia Hypoplasia of penis Dandy-Walker malformation Bifid uvula Microcornea Retinal detachment Retinal dystrophy Retinal atrophy Retinal dysplasia Thick cerebral cortex Meningoencephalocele Aplasia/Hypoplasia involving the skeletal musculature Hypoplastic male external genitalia Chorioretinal dysplasia Abnormal lactate dehydrogenase activity Macrogyria Metatarsus valgus Abnormality of the cerebellar vermis Abnormal levels of creatine kinase in blood Hypoglycosylation of alpha-dystroglycan Posterior fossa cyst Abnormal cortical gyration Remnants of the hyaloid vascular system Excessive daytime sleepiness Agyria Cerebellar cyst Type II lissencephaly Cerebellar dysplasia Muscle fiber splitting Peters anomaly Aqueductal stenosis Abnormality of the optic nerve Fused sternal ossification centers



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Feeding difficulties and Hypogonadism, related diseases and genetic alterations Motor delay and Choanal atresia, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more