Intellectual disability, severe, and Synophrys

Diseases related with Intellectual disability, severe and Synophrys

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

Top matches:

Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome is a rare, syndromic intellectual disability primarily characterized by moderate to severe intellectual disability, true-to-relative microcephaly and brain abnormalities including a thin corpus callosum, cerebellar hypoplasia, cerebral white matter hypoplasia and multi-focal hyperintensity of cerebral white matter on MRI. Obesity and distinctive craniofacial dysmorphism (including brachycephaly, round face, straight eyebrows, synophrys, hypertelorism, epicanthus, wide and depressed nasal bridge, protruding ears with uplifted lobe, downslanting corners of the mouth) are additional features.

INTELLECTUAL DISABILITY-OBESITY-BRAIN MALFORMATIONS-FACIAL DYSMORPHISM SYNDROME Is also known as autosomal recessive intellectual disability due to trappc9 deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Microcephaly
  • Hypertelorism
  • Abnormal facial shape


SOURCES: ORPHANET MENDELIAN

More info about INTELLECTUAL DISABILITY-OBESITY-BRAIN MALFORMATIONS-FACIAL DYSMORPHISM SYNDROME

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

The Sanfilippo syndrome, or mucopolysaccharidosis III, is an autosomal recessive lysosomal storage disease due to impaired degradation of heparan sulfate (Esposito et al., 2000). The disorder is characterized by severe central nervous system degeneration, but only mild somatic disease. Onset of clinical features usually occurs between 2 and 6 years; severe neurologic degeneration occurs in most patients between 6 and 10 years of age, and death occurs typically during the second or third decade of life. Type A has been reported (van de Kamp et al., 1981) to be the most severe, with earlier onset and rapid progression of symptoms and shorter survival. Genetic Heterogeneity of Mucopolysaccharidosis Type IIIMPS III includes 4 types, each due to the deficiency of a different enzyme: heparan N-sulfatase (type A); alpha-N-acetylglucosaminidase (type B; {252920}); acetyl CoA:alpha-glucosaminide acetyltransferase (type C; {252930}); and N-acetylglucosamine 6-sulfatase (type D; {252940}).

MUCOPOLYSACCHARIDOSIS, TYPE IIIA; MPS3A Is also known as mps iiia|sulfamidase deficiency|sanfilippo syndrome a|heparan sulfate sulfatase deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about MUCOPOLYSACCHARIDOSIS, TYPE IIIA; MPS3A

Other less relevant matches:

Related symptoms:

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


SOURCES: MESH OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL RECESSIVE 13; MRT13

Holoprosencephaly associated with mutations in the ZIC2 gene.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Microcephaly
  • Hypertelorism
  • Abnormal facial shape


SOURCES: OMIM MESH MENDELIAN

More info about HOLOPROSENCEPHALY 5; HPE5

Related symptoms:

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


SOURCES: OMIM MESH MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5; MRT5

Corpus callosum agenesis-abnormal genitalia syndrome is a rare, genetic developmental defect during embryogenesis syndrome characterized by agenesis of the corpus callosum, mild to severe neurological manifestations (intellectual disability, developmental delay, epilepsy, dystonia), and urogenital anomalies (hypospadias, cryptorchidism, renal dysplasia, ambiguous genitalia). Additionally, skeletal anomalies (limb contractures, scoliosis), dysmorphic facial features (prominent supraorbital ridges, synophris, large eyes) and optic atrophy have been observed.

CORPUS CALLOSUM AGENESIS-ABNORMAL GENITALIA SYNDROME Is also known as proud syndrome|microcephaly-corpus callosum agenesis-abnormal genitalia syndrome|acc with abnormal genitalia|acc-abnormal genitalia syndrome|proud-levine-carpenter syndrome

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about CORPUS CALLOSUM AGENESIS-ABNORMAL GENITALIA SYNDROME

Spondyloepimetaphyseal dysplasia, Geneviève type is a rare primary bone dysplasia characterized by severe developmental delay and skeletal dysplasia (including short stature, premature carpal ossification, platyspondyly, longitudinal metaphyseal striations, and small epiphyses), as well as moderate to severe intellectual disability and facial dysmorphism, including prominent forehead, mild synophrys, depressed nasal bridge, prominent bulbous nasal tip and full lips.

SPONDYLOEPIMETAPHYSEAL DYSPLASIA, GENEVIÈVE TYPE Is also known as nans deficiency|semd, genevieve type|semdg|semd, geneviÈve type

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about SPONDYLOEPIMETAPHYSEAL DYSPLASIA, GENEVIÈVE TYPE

Waardenburg syndrome type 3 is an auditory-pigmentary syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes; congenital sensorineural hearing loss; presence of 'dystopia canthorum,' the lateral displacement of the ocular inner canthi; and upper limb abnormalities (reviews by Read and Newton, 1997 and Pingault et al., 2010). WS type 3 is also referred to as 'Klein-Waardenburg syndrome' (Gorlin et al., 1976). Clinical Variability of Waardenburg Syndrome Types 1-4Waardenburg syndrome has been classified into 4 main phenotypes. Type I Waardenburg syndrome (WS1 ) is characterized by pigmentary abnormalities of the hair, including a white forelock and premature graying; pigmentary changes of the iris, such as heterochromia iridis and brilliant blue eyes; congenital sensorineural hearing loss; and 'dystopia canthorum.' WS type II (WS2) is distinguished from type I by the absence of dystopia canthorum. WS type III has dystopia canthorum and is distinguished by the presence of upper limb abnormalities. WS type IV (WS4 ), also known as Waardenburg-Shah syndrome, has the additional feature of Hirschsprung disease (reviews by Read and Newton, 1997 and Pingault et al., 2010).

WAARDENBURG SYNDROME, TYPE 3; WS3 Is also known as klein-waardenburg syndrome|waardenburg syndrome, type iii|waardenburg syndrome with upper limb anomalies

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly
  • Hypertelorism


SOURCES: OMIM MENDELIAN

More info about WAARDENBURG SYNDROME, TYPE 3; WS3

15q13.3 microdeletion (microdel15q13.3) syndrome is characterized by a wide spectrum of neurodevelopmental disorders with no or subtle dysmorphic features.

15Q13.3 MICRODELETION SYNDROME Is also known as del(15)(q13.3)|chromosome 15q13.3 microdeletion syndrome|monosomy 15q13.3

Related symptoms:

  • Seizures
  • Schizophrenia
  • Bipolar affective disorder


SOURCES: MESH MENDELIAN

More info about 15Q13.3 MICRODELETION SYNDROME

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

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

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Delayed speech and language development Short stature Strabismus Wide nasal bridge Generalized hypotonia Hirsutism Hyperactivity Abnormality of the skeletal system Smooth philtrum Telecanthus Hydrocephalus Low anterior hairline High palate Coarse facial features Hypotelorism Hypoplasia of the corpus callosum Epicanthus Cerebral cortical atrophy Muscular hypotonia Brachycephaly Abnormal facial shape

Rare Symptoms - Less than 30% cases

Underdeveloped nasal alae Ataxia Hearing impairment Cleft palate Agenesis of corpus callosum Obesity Progressive microcephaly Motor delay Spasticity Prominent nasal bridge Neonatal hypotonia Upslanted palpebral fissure Narrow forehead Abnormality of the pinna Scoliosis Short philtrum Horizontal eyebrow Nystagmus Thick vermilion border Ventriculomegaly Round face Short neck Growth delay Cleft lip Flexion contracture Blepharophimosis Tapered finger Downturned corners of mouth Broad alveolar ridges Hyperconvex nail Low posterior hairline Cognitive impairment Cerebral atrophy Abnormality of the skin Joint laxity Prominent forehead Skeletal dysplasia Wide nose Limb joint contracture Confusion Bulbous nose Flat face Platyspondyly Intellectual disability, progressive Abnormal hair pattern Spastic tetraplegia Short chin Brisk reflexes Thick upper lip vermilion Achilles tendon contracture Cryptorchidism Visual impairment Optic atrophy Hypospadias Inguinal hernia Severe global developmental delay Tetraplegia Abnormality of the genital system Abnormally large globe Renal dysplasia Generalized hirsutism Broad-based gait Narrow face Lissencephaly Renal hypoplasia/aplasia Prominent supraorbital ridges Overlapping toe Abnormality of the hip bone Eczema Infantile spasms Protruding ear Posterior scalloping of vertebral bodies Thick lower lip vermilion Vitiligo Abdominal distention Aganglionic megacolon Anorexia Joint contracture of the hand Scapular winging Hypopigmented skin patches Congenital sensorineural hearing impairment Albinism Premature graying of hair Cutaneous finger syndactyly Sprengel anomaly Carpal synostosis Abnormality of skin pigmentation Blue irides Heterochromia iridis White hair Atelectasis White forelock Bronchomalacia Narrow naris Partial albinism Dacryocystitis Poliosis Schizophrenia Hypopigmentation of the skin Paraplegia Infantile muscular hypotonia Long fibula Metaphyseal irregularity Spondyloepiphyseal dysplasia Flared metaphysis Short femoral neck Irregular vertebral endplates Flat acetabular roof Spondyloepimetaphyseal dysplasia Small epiphyses Irregular epiphyses Carpal bone hypoplasia Narrow iliac wings Metaphyseal striations Arthrogryposis multiplex congenita Small basal ganglia Failure to thrive Sensorineural hearing impairment Brachydactyly Atrial septal defect Vomiting Syndactyly Clinodactyly Mandibular prognathia Camptodactyly of finger Spastic paraplegia Esotropia Absent thumb Prominent nose Limb ataxia Diarrhea Behavioral abnormality Splenomegaly Pneumonia Dementia Joint stiffness Corneal opacity Sleep disturbance Progressive neurologic deterioration Split hand Recurrent upper respiratory tract infections Exaggerated cupid's bow Growth abnormality Coarse hair Thickened calvaria Restlessness Dysostosis multiplex Asymmetric septal hypertrophy Visceromegaly Heparan sulfate excretion in urine Central nervous system degeneration Thickened ribs Hepatomegaly Optic disc hypoplasia Dense calvaria Multifocal cerebral white matter abnormalities Clinodactyly of the 5th finger Cerebellar hypoplasia Thin upper lip vermilion Generalized myoclonic seizures Congenital hypothyroidism Underdeveloped supraorbital ridges Malignant hyperthermia Congenital stationary night blindness Abnormality of brain morphology Large fleshy ears Micrognathia Prominent metopic ridge Frontal bossing High forehead Abnormal cardiac septum morphology Generalized tonic-clonic seizures Thin vermilion border Vesicoureteral reflux Intestinal malrotation Preauricular skin tag Horseshoe kidney Biparietal narrowing Ovoid thoracolumbar vertebrae Developmental regression Thick eyebrow Hyperreflexia Deep philtrum Trigonocephaly Abnormality of digit Facial cleft Scaphocephaly Single median maxillary incisor Cyclopia Proboscis Small posterior fossa Exencephaly Dysarthria Exotropia Myopathy Abnormality of the dentition Hypertonia Elevated serum creatine phosphokinase Pes cavus Muscular hypotonia of the trunk Postnatal growth retardation Sparse hair Small for gestational age Long face Holoprosencephaly Microcornea Abnormality of the cerebral white matter Abnormality of the cerebellar vermis Cleft upper lip Febrile seizures Postnatal microcephaly Severe muscular hypotonia Truncal obesity Slender finger Overweight Mild microcephaly Bruxism Unilateral cleft lip Ptosis Oral cleft Depressed nasal bridge Macrocephaly Anteverted nares Short nose Microphthalmia Midface retrusion Macrotia Coloboma Broad forehead Hypermetropia Astigmatism Bipolar affective disorder


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