Intellectual disability, severe, and Frontal bossing

Diseases related with Intellectual disability, severe and Frontal bossing

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

Top matches:

High match AICA-RIBOSIDURIA

AICA-ribosiduria is an extremely severe inborn error of purine biosynthesis characterized clinically in the single reported case to date by profound intellectual deficit, epilepsy, dysmorphic features of the knees, elbows, and shoulders and congenital blindness.

AICA-RIBOSIDURIA Is also known as aica-ribosuria due to atic deficiency|5-amino-4-imidazole carboxamide ribosiduria|atic deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Muscular hypotonia
  • Low-set ears


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about AICA-RIBOSIDURIA

NDHMSR is an autosomal recessive neurodevelopmental disorder characterized by severely delayed psychomotor development, severe intellectual disability, and involuntary movements, including stereotypic movements, spasticity, and dystonia. Affected individuals are are usually unable to walk independently and have poor or absent speech. Some patients have intractable seizures (summary by Lemke et al., 2016).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE; NDHMSR

Related symptoms:

  • Intellectual disability
  • Scoliosis
  • High palate
  • Macrocephaly
  • Frontal bossing


SOURCES: OMIM MESH MENDELIAN

More info about MENTAL RETARDATION, X-LINKED, SYNDROMIC 14; MRXS14

Other less relevant matches:

1q44 microdeletion syndrome is a newly described syndrome associated with facial dysmorphism, developmental delay, in particular of expressive speech, seizures and hypotonia.

1Q44 MICRODELETION SYNDROME Is also known as del(1)(q44)|monosomy 1q44

Related symptoms:

  • Global developmental delay
  • Short stature
  • Microcephaly
  • Scoliosis
  • Growth delay


SOURCES: ORPHANET MENDELIAN

More info about 1Q44 MICRODELETION SYNDROME

Hypotonia-Cystinuria syndrome (HCS) is a rare syndrome including neonatal and infantile hypotonia and failure to thrive, cystinuria type 1 and nephrolithiasis, growth retardation due to growth hormone deficiency, and minor facial dysmorphism.

HYPOTONIA-CYSTINURIA SYNDROME Is also known as cystinuria with mitochondrial disease|hcs|homozygous 2p16 deletion syndrome, formerly

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about HYPOTONIA-CYSTINURIA SYNDROME

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

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

X-linked intellectual deficit-cerebellar hypoplasia, also known as OPHN1 syndrome, is a rare syndromic form of cerebellar dysgenesis characterized by moderate to severe intellectual deficit and cerebellar abnormalities.

X-LINKED INTELLECTUAL DISABILITY-CEREBELLAR HYPOPLASIA SYNDROME Is also known as oligophrenin-1 syndrome|ophn1 syndrome|mental retardation, x-linked 60, formerly|mrx60, formerly

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY-CEREBELLAR HYPOPLASIA SYNDROME

Rhizomelic chondrodysplasia punctata (RCDP) is a peroxisomal disorder characterized by disproportionately short stature primarily affecting the proximal parts of the extremities, a typical facial appearance including a broad nasal bridge, epicanthus, high-arched palate, dysplastic external ears, and micrognathia, congenital contractures, characteristic ocular involvement, dwarfism, and severe mental retardation with spasticity. Biochemically, plasmalogen synthesis and phytanic acid alpha-oxidation are defective. Most patients die in the first decade of life. RCDP1 is the most frequent form of RCDP (summary by Wanders and Waterham, 2005).Individuals with RCDP1, carrying mutations in the PEX7 gene, have cells of peroxisome biogenesis disorder (PBD) complementation group 11 (CG11, equivalent to CGR). For information on the history of PBD complementation groups, see {214100}. Genetic Heterogeneity of Rhizomelic Chondrodysplasia PunctataRCDP2 (OMIM ) is caused by mutation in the gene encoding acyl-CoA:dihydroxyacetonephosphate acyltransferase (GNPAT ) on chromosome 1q42. RCDP3 (OMIM ) is caused by mutation in the gene encoding alkyldihydroxyacetonephosphate synthase (alkyl-DHAP synthase) (AGPS ) on chromosome 2q31. RCDP5 (OMIM ) is caused by mutation in the gene encoding peroxisomal biogenesis factor-5 (PEX5 ) on chromosome 12p13.Whereas RCDP1 is a peroxisomal biogenesis disorder (PBD), RCDP2 and RCDP3 are classified as single peroxisome enzyme deficiencies (Waterham and Ebberink, 2012).

RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1; RCDP1 Is also known as pbd9|chondrodystrophia calcificans punctata|chondrodysplasia punctata, rhizomelic form|peroxisome biogenesis disorder 9|cdpr

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1; RCDP1

Some ectodermal dysplasias are here classified as congenital disorders characterized by abnormal development in 2 or more ectodermal structures (hair, nails, teeth, and sweat glands) without other systemic findings.Hypohidrotic, or anhidrotic, ectodermal dysplasia (HED/EDA) is characterized by a triad of signs comprising sparse hair (hypotrichosis), abnormal or missing teeth (anodontia or hypodontia), and inability to sweat (anhidrosis or hypohidrosis). Typical clinical manifestations also include dryness of the skin, eyes, airways, and mucous membranes presumably due to the defective development of several exocrine glands. Hypohidrotic ectodermal dysplasia can be associated with dysmorphic features (forehead bumps, rings under the eyes, everted nose, and prominent lips) and occasionally with absent nipples. Ectodermal dysplasia-1, due to mutation in the EDA gene, is the most frequent form of hypohidrotic ectodermal dysplasia (summary by Cluzeau et al., 2011).

X-LINKED HYPOHIDROTIC ECTODERMAL DYSPLASIA Is also known as xhed|ectd1|cst syndrome|ed1|christ-siemens-touraine syndrome|eda1|eda|ectodermal dysplasia, anhidrotic, x-linked|ectodermal dysplasia, hypohidrotic, 1|x-linked anhidrotic ectodermal dysplasia|hed1|xlhed|ectodermal dysplasia 1, hypohidrotic/hair/tooth type

Related symptoms:

  • Intellectual disability
  • Feeding difficulties
  • Depressed nasal bridge
  • Hypertension
  • Fever


SOURCES: OMIM ORPHANET MENDELIAN

More info about X-LINKED HYPOHIDROTIC ECTODERMAL DYSPLASIA

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

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Global developmental delay Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Prominent forehead Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Depressed nasal bridge Muscular hypotonia Microcephaly Scoliosis Strabismus Spasticity Hypoplasia of the corpus callosum Cerebral cortical atrophy Growth delay High palate Macrocephaly Kyphosis Ventriculomegaly Hydrocephalus Abnormal facial shape Epicanthus Motor delay Atrial septal defect

Rare Symptoms - Less than 30% cases

High forehead Abnormal cardiac septum morphology Intellectual disability, moderate Neonatal hypotonia Long face Hypoplasia of the maxilla Telecanthus Macrotia Nasal speech Severe failure to thrive Polymicrogyria Upslanted palpebral fissure Prominent supraorbital ridges Short stature Rhizomelia Hypertelorism Micrognathia Delayed speech and language development Abnormality of metabolism/homeostasis Mandibular prognathia Blindness Thin upper lip vermilion Midface retrusion Abnormality of the dentition Prominent nasal bridge Megalencephaly Poor eye contact Severe global developmental delay Ptosis Severe muscular hypotonia Short distal phalanx of finger Dry skin Sparse body hair Intellectual disability, profound Severe short stature Absent speech Wide nasal bridge Cataract Flexion contracture Respiratory insufficiency Malar flattening Cleft lip Hernia Alopecia Kyphoscoliosis Cleft palate Congenital cataract Pulmonic stenosis Ichthyosis Flat face Pulmonary hypoplasia Limitation of joint mobility Limb undergrowth Congenital diaphragmatic hernia Abnormality of the metaphysis Pain Concave nail Sensorineural hearing impairment Triangular face Dilatation Cerebellar hypoplasia Hyperactivity Micropenis Gait ataxia Autism Deeply set eye Attention deficit hyperactivity disorder Short philtrum Neurological speech impairment Poor speech Dysmetria Abnormal cerebellum morphology Prominent nose Disorganization of the anterior cerebellar vermis Focal-onset seizure Hypotelorism Cerebellar vermis hypoplasia Intention tremor Scrotal hypoplasia Focal impaired awareness seizure External genital hypoplasia Long nose Aplasia/Hypoplastia of the eccrine sweat glands Enlarged cisterna magna Microphallus Abnormality of the philtrum Retrocerebellar cyst Infra-orbital crease Abnormality of epiphysis morphology Feeding difficulties Spina bifida occulta Anhidrosis Sparse scalp hair Depressed nasal ridge Thin skin Hypohidrosis Sparse and thin eyebrow Everted upper lip vermilion Hoarse voice Type I diabetes mellitus Short chin Sparse eyelashes Dysphonia Brittle hair Absent eyebrow Aplasia/Hypoplasia of the eyebrow Microdontia Agenesis of permanent teeth Hypoplastic nipples Abnormal oral mucosa morphology Hypohidrotic ectodermal dysplasia Rhinitis Absent eyelashes Soft skin Taurodontia Anodontia Heat intolerance Conical tooth Anterior hypopituitarism Anhidrotic ectodermal dysplasia Eczema Underdeveloped nasal alae Epiphyseal dysplasia Fever Congenital contracture Flared metaphysis Epiphyseal stippling Polysplenia Concave nasal ridge Delayed CNS myelination Multiple epiphyseal dysplasia Coronal cleft vertebrae Bilateral cleft palate Calcific stippling of infantile cartilaginous skeleton Pregnancy exposure Absent nipple Hypertension Respiratory distress Ectodermal dysplasia Short nose Immunodeficiency Recurrent respiratory infections Hyperhidrosis Respiratory tract infection Cognitive impairment Periorbital hyperpigmentation Periorbital wrinkles Sparse hair Hypotrichosis Thick vermilion border Everted lower lip vermilion Delayed eruption of teeth Hypodontia Tremor Enlarged cerebellum Cryptorchidism Areflexia Thin vermilion border Vesicoureteral reflux Intestinal malrotation Preauricular skin tag Horseshoe kidney Biparietal narrowing Prominent metopic ridge Optic disc hypoplasia Exaggerated cupid's bow Failure to thrive Muscle weakness Fatigue Posteriorly rotated ears Synophrys Hypogonadism Acidosis Retrognathia Facial palsy Feeding difficulties in infancy Dolichocephaly Arthrogryposis multiplex congenita Lactic acidosis Growth hormone deficiency Decreased fetal movement Nephrolithiasis Long eyelashes Hypergonadotropic hypogonadism Smooth philtrum Generalized tonic-clonic seizures Hypocalcemia Epileptic encephalopathy Low-set ears Optic atrophy Anteverted nares Brachycephaly Wide mouth Abnormality of the skin Clitoral hypertrophy Congenital blindness Fused labia minora Dystonia Cerebral atrophy Encephalopathy Inability to walk Involuntary movements Agenesis of corpus callosum Self-injurious behavior Neurodevelopmental delay Intellectual disability, mild Pectus excavatum Pectus carinatum Narrow chest Arachnodactyly Narrow face Growth abnormality Abnormality of the sternum Abnormality of the musculature Long foot Slender build Increased body weight Tented upper lip vermilion Nystagmus Knee flexion contracture Fibular bowing Aplasia/Hypoplasia of the mandible Visual impairment Skeletal muscle atrophy Ventricular septal defect Polydactyly Narrow mouth Muscular hypotonia of the trunk Postaxial polydactyly Postaxial hand polydactyly Mitral regurgitation Pachygyria Large for gestational age Cloverleaf skull Cortical dysplasia Infantile spasms Long palpebral fissure Thoracic scoliosis Abnormally large globe Dilation of lateral ventricles Abnormal localization of kidney Cavum septum pellucidum Abnormal nasal morphology Capillary malformation Vascular ring Thick corpus callosum Ataxia Metaphyseal chondrodysplasia Central apnea Abnormality of mitochondrial metabolism Otitis media Polyphagia Central hypotonia Neonatal hypoglycemia Cystinuria Hearing impairment Congestive heart failure Respiratory failure Gastroesophageal reflux Skeletal dysplasia Craniosynostosis Platyspondyly Micromelia Brain atrophy Generalized-onset seizure Abnormality of the clavicle High myopia Lumbar hyperlordosis Epidermal acanthosis Pulmonary arterial hypertension Exotropia Wide anterior fontanel Acanthosis nigricans Sleep apnea Redundant skin Thoracic hypoplasia Mesomelia Femoral bowing Tibial bowing Hypoplastic-absent sebaceous glands


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