Intellectual disability, severe, and Craniosynostosis

Diseases related with Intellectual disability, severe and Craniosynostosis

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

Top matches:

Craniosynostosis is a primary abnormality of skull growth involving premature fusion of the cranial sutures such that the growth velocity of the skull often cannot match that of the developing brain. This produces skull deformity and, in some cases, raises intracranial pressure, which must be treated promptly to avoid permanent neurodevelopmental disability (summary by Fitzpatrick, 2013).For a discussion of genetic heterogeneity of craniosynostosis, see CRS1 (OMIM ).

CRANIOSYNOSTOSIS 7; CRS7 Is also known as crs7, digenic|craniosynostosis 7, digenic

Related symptoms:

  • Delayed speech and language development
  • Craniosynostosis


SOURCES: OMIM MENDELIAN

More info about CRANIOSYNOSTOSIS 7; CRS7

Medium match ISOLATED OXYCEPHALY

Isolated oxycephaly is a late-appearing form of nonsyndromic craniosynostosis characterized by premature fusion of both the coronal and sagittal sutures, and, in some cases, of the lambdoid sutures. Compensatory growth in the region of the anterior fontanel results in a pointed or cone-shaped skull.

ISOLATED OXYCEPHALY Is also known as acrocephaly|pyrgocephaly|hypsocephaly|turricephaly|hypsicephaly

Related symptoms:

  • Intellectual disability, severe
  • Intellectual disability, moderate
  • Arnold-Chiari malformation
  • Increased intracranial pressure
  • Papilledema


SOURCES: ORPHANET MENDELIAN

More info about ISOLATED OXYCEPHALY

Autosomal recessive primary microcephaly (MCPH) is a rare genetically heterogeneous disorder of neurogenic brain development characterized by reduced head circumference at birth with no gross anomalies of brain architecture and variable degrees of intellectual impairment.

AUTOSOMAL RECESSIVE PRIMARY MICROCEPHALY Is also known as mcph|premature chromosome condensation with microcephaly and mental retardation|pcc syndrome|true microcephaly|premature chromosome condensation syndrome|microcephalia vera|microcephaly vera

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE PRIMARY MICROCEPHALY

Other less relevant matches:

BILATERAL GENERALIZED POLYMICROGYRIA Is also known as pmgys|polymicrogyria with seizures

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about BILATERAL GENERALIZED POLYMICROGYRIA

Severe achondroplasia-developmental delay-acanthosis nigricans syndrome is characterised by the association of severe achondroplasia with developmental delay and acanthosis nigricans. It has been described in four unrelated individuals. Structural central nervous system anomalies, seizures and hearing loss were also reported, together with bowing of the clavicle, femur, tibia and fibula in some cases. The syndrome is caused by a Lys650Met substitution in the kinase domain of fibroblast growth factor receptor 3 (encoded by the FGFR3 gene; 4p16.3).

SEVERE ACHONDROPLASIA-DEVELOPMENTAL DELAY-ACANTHOSIS NIGRICANS SYNDROME Is also known as saddan|saddan dysplasia

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about SEVERE ACHONDROPLASIA-DEVELOPMENTAL DELAY-ACANTHOSIS NIGRICANS SYNDROME

Corpus callosum agenesis-neuronopathy syndrome is a neurodegenerative disorder characterized by severe progressive sensorimotor neuropathy beginning in infancy with resulting hypotonia, areflexia, amyotrophy and variable degrees of dysgenesis of the corpus callosum. Additional features include mild-to-severe intellectual and developmental delays, and psychiatric manifestations that include paranoid delusions, depression, hallucinations, and "autistic-like" features. Affected individuals are usually wheelchair restricted in the second decade of life and die in the third decade of life. The disease is inherited as an autosomal recessive trait.

CORPUS CALLOSUM AGENESIS-NEURONOPATHY SYNDROME Is also known as andermann syndrome|charlevoix disease|polyneuropathy, sensorimotor, with or without agenesis of the corpus callosum|corpus callosum, agenesis of, with neuronopathy

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about CORPUS CALLOSUM AGENESIS-NEURONOPATHY SYNDROME

Van den Ende-Gupta syndrome is a very rare syndrome characterized by blepharophimosis, arachnodactyly, joint contractures, and characteristic dysmorphic features.

VAN DEN ENDE-GUPTA SYNDROME Is also known as marden-walker-like syndrome|vdegs|blepharophimosis, arachnodactyly, and congenital contractures|marden-walker-like syndrome without psychomotor retardation

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about VAN DEN ENDE-GUPTA SYNDROME

Medium 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

Medium match HENNEKAM SYNDROME

Hennekam syndrome is characterised by the association of lymphoedema, intestinal lymphangiectasia, intellectual deficit and facial dysmorphism.

HENNEKAM SYNDROME Is also known as lymphedema-lymphangiectasia-intellectual disability syndrome|lymphatic dysplasia, generalized|hennekam lymphangiectasia-lymphedema syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Scoliosis
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about HENNEKAM SYNDROME

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

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Growth delay Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Abnormal facial shape Generalized hypotonia Depressed nasal bridge Hypertelorism Short stature Cryptorchidism Agenesis of corpus callosum Wide nasal bridge Flexion contracture Intellectual disability, moderate High palate Hearing impairment Failure to thrive Motor delay Pectus excavatum Neonatal hypotonia Strabismus Talipes equinovarus Congestive heart failure Cleft palate Pachygyria Ptosis Hydronephrosis Low-set ears Scoliosis Epicanthus Ventricular septal defect Respiratory distress

Rare Symptoms - Less than 30% cases

Atrial septal defect Camptodactyly Narrow mouth Malar flattening Intellectual disability, mild Muscular hypotonia Brachydactyly Smooth philtrum Optic atrophy Bilateral single transverse palmar creases Femoral bowing Low-set, posteriorly rotated ears Abnormality of the dentition Redundant skin Patent ductus arteriosus Abnormal heart morphology Midface retrusion Laryngomalacia Gastroesophageal reflux Hirsutism Micromelia Feeding difficulties Posteriorly rotated ears Horseshoe kidney Multiple joint contractures Ectopic kidney Delayed speech and language development Short nose Thin upper lip vermilion Unilateral renal agenesis Heterotopia Spastic tetraplegia Sloping forehead Vesicoureteral reflux Tetraplegia Upslanted palpebral fissure Joint contracture of the hand Ventriculomegaly Micrognathia Hypoplasia of the maxilla Dislocated radial head Coronal craniosynostosis Narrow forehead Hepatomegaly EEG abnormality Absent speech Polyhydramnios Syndactyly Macrotia Poor speech Respiratory tract infection Intrauterine growth retardation Delayed skeletal maturation Gingival overgrowth Severe short stature Ulnar deviation of finger Abnormality of the helix Sacral dimple Abnormal hair pattern Postaxial foot polydactyly Anal stenosis Trigonocephaly Renal hypoplasia/aplasia Failure to thrive in infancy Short chin Cutis laxa Abnormality of immune system physiology Hand polydactyly Biparietal narrowing Aplasia/Hypoplasia of the corpus callosum Radial deviation of finger Joint dislocation Clitoral hypertrophy Multicystic kidney dysplasia Talipes Abnormality of the genital system Slender metacarpals Clinodactyly Abnormality of cardiovascular system morphology Long philtrum Short neck Anteverted nares Hypertension Long metacarpals Constipation Glenoid fossa hypoplasia Distal ulnar hypoplasia Narrow foot Camptodactyly of toe Ulnar bowing Long hallux Clinodactyly of the 5th finger Polydactyly Omphalocele Limitation of joint mobility Intellectual disability, profound Congenital diaphragmatic hernia Postaxial hand polydactyly Tetralogy of Fallot Limb undergrowth Short metacarpal Postaxial polydactyly Proptosis Thin vermilion border Oral cleft Medulloblastoma Toe syndactyly Hip dislocation Wide mouth Cleft lip Aplasia/Hypoplasia of the abdominal wall musculature Recurrent respiratory infections Broad alveolar ridges Hypoalbuminemia Polysplenia External ear malformation Palpebral edema Increased number of teeth Cutaneous finger syndactyly Pericardial effusion Abnormality of dental morphology Pleural effusion Pyloric stenosis Hypoplastic iliac wing Reduced number of teeth Oligodontia Cutaneous syndactyly Abnormal intestine morphology Spina bifida occulta Narrow palate Hypocalcemia Lymphopenia Edema of the lower limbs Arteriovenous malformation Lymphedema Erysipelas Pericardial lymphangiectasia Thyroid lymphangiectasia Mild postnatal growth retardation Benign neoplasm of the central nervous system Conical incisor Severe hydrops fetalis Pulmonary lymphangiectasia Lymphangioma Intestinal lymphangiectasia Nonimmune hydrops fetalis Abnormal oral mucosa morphology Primary hypothyroidism Chylothorax Rectal prolapse Periorbital edema Protein-losing enteropathy Generalized edema Hypoproteinemia Sparse axillary hair Hydrops fetalis Decreased antibody level in blood Accessory oral frenulum Thick anterior alveolar ridges Dilatation Splenomegaly Diarrhea Edema Respiratory insufficiency Cognitive impairment Sensorineural hearing impairment Fused sternal ossification centers Midline facial capillary hemangioma Hyperactivity Right-to-left shunt Hypoplasia of the ear cartilage Renal cortical cysts Conotruncal defect Pseudohypoaldosteronism Female pseudohermaphroditism Metopic synostosis Abnormality of the anus Eclabion Glaucoma Ascites Narrow chest Delayed eruption of teeth Short foot Small hand Short palm Flat face Lymphadenopathy Abnormality of the foot Malabsorption Finger syndactyly Hypothyroidism Broad forehead Microtia Short philtrum Camptodactyly of finger Abnormality of the kidney Conductive hearing impairment Hepatosplenomegaly Umbilical hernia Retrognathia Lateral clavicle hook Neonatal respiratory distress Hypoplastic scapulae Pulmonary arterial hypertension Thoracic hypoplasia Sleep apnea Acanthosis nigricans Wide anterior fontanel Exotropia Rhizomelia Epidermal acanthosis Tibial bowing Lumbar hyperlordosis High myopia Generalized-onset seizure Otitis media Brain atrophy Platyspondyly Severe global developmental delay Mesomelia Abnormality of the clavicle Respiratory failure Peripheral neuropathy Developmental regression Facial palsy Brachycephaly Areflexia Tremor Skeletal muscle atrophy Myopia Muscle weakness Megalencephaly Nystagmus Enlarged cerebellum Aplasia/Hypoplasia of the mandible Fibular bowing Metaphyseal chondrodysplasia Cloverleaf skull Central apnea Skeletal dysplasia Kyphosis Limb muscle weakness Hypergonadotropic hypogonadism Increased rate of premature chromosome condensation Small cerebral cortex Hypoplasia of the frontal lobes Bird-like facies Abnormal cortical bone morphology Mild microcephaly Chromosome breakage Hypogonadism Dysarthria Hyperreflexia Lambdoidal craniosynostosis Oxycephaly Sagittal craniosynostosis Papilledema Increased intracranial pressure Arnold-Chiari malformation Spasticity Cerebellar atrophy Hydrocephalus Cardiorespiratory arrest Hypoplasia of the corpus callosum Frontal bossing Short corpus callosum Gray matter heterotopias Abnormality of the spinal cord Abnormal corpus callosum morphology Duodenal atresia Severe failure to thrive Hypospadias Mild short stature Lissencephaly Spastic tetraparesis Tetraparesis Polymicrogyria Abnormal pyramidal sign Cerebellar hypoplasia Abnormality of the cerebral white matter Facial asymmetry Choanal stenosis Abnormality of the skeletal system Triangular face Everted lower lip vermilion High, narrow palate Arachnodactyly Blepharophimosis Protruding ear Lacrimal duct stenosis Underdeveloped nasal alae Chronic lung disease Preauricular pit Plagiocephaly Microretrognathia Muscle stiffness Cerebral visual impairment Abnormal lung morphology Asthma Convex nasal ridge Broad nasal tip Hallux valgus Single umbilical artery Sclerocornea Abnormal eyebrow morphology Narrow nose Thin ribs Slender long bone Narrow nasal bridge Stridor Dandy-Walker malformation Congenital contracture Knee flexion contracture Elbow flexion contracture Cardiac arrest Dental crowding Bowing of the long bones Ambiguous genitalia Intestinal malrotation Downturned corners of mouth Peripheral axonal neuropathy Sensorimotor neuropathy 2-3 toe syndactyly Decreased motor nerve conduction velocity Hemiplegia/hemiparesis Decreased nerve conduction velocity CNS hypomyelination Paraparesis Low anterior hairline Abnormality of retinal pigmentation Partial agenesis of the corpus callosum Psychosis Esotropia Polyneuropathy Tapered finger Sensory neuropathy Inability to walk Long face Infantile spasms Onion bulb formation Prominent nasal bridge Diffuse white matter abnormalities Abnormal cardiac septum morphology Dystonia Visual impairment Abnormal anterior horn cell morphology Decreased sensory nerve conduction velocity Limb tremor Axonal degeneration/regeneration EMG: chronic denervation signs Turricephaly Progressive peripheral neuropathy Motor polyneuropathy Restrictive deficit on pulmonary function testing Aqueductal stenosis Demyelinating peripheral neuropathy Facial diplegia Increased CSF protein Pleural lymphangiectasia


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