Intellectual disability, and Tapered finger

Diseases related with Intellectual disability and Tapered finger

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

Top matches:

Optic atrophy-intellectual disability syndrome is a rare, hereditary, syndromic intellectual disability characterized by developmental delay, intellectual disability, and significant visual impairment due to optic nerve atrophy, optic nerve hypoplasia or cerebral visual impairment. Other common clinical signs and symptoms are hypotonia, oromotor dysfunction, seizures, autism spectrum disorder, and repetitive behaviors. Dysmorphic facial features are variable and nonspecific.

OPTIC ATROPHY-INTELLECTUAL DISABILITY SYNDROME Is also known as bbsoas|bosch-boonstra-schaaf optic atrophy syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Nystagmus
  • Strabismus


SOURCES: OMIM ORPHANET MENDELIAN

More info about OPTIC ATROPHY-INTELLECTUAL DISABILITY SYNDROME

Otofaciocervical syndrome (OTFCS) is a rare disorder characterized by facial anomalies, cup-shaped low-set ears, preauricular fistulas, hearing loss, branchial defects, skeletal anomalies including vertebral defects, low-set clavicles, winged scapulae, sloping shoulders, and mild intellectual disability (summary by Pohl et al., 2013).For a discussion of genetic heterogeneity of otofaciocervical syndrome, see OTFCS1 (OMIM ).

OTOFACIOCERVICAL SYNDROME 2; OTFCS2 Is also known as ofc2

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Low-set ears
  • Downslanted palpebral fissures
  • Abnormality of the skeletal system


SOURCES: OMIM MENDELIAN

More info about OTOFACIOCERVICAL SYNDROME 2; OTFCS2

Methylmalonic acidemia and homocysteinemia, cblX type, is an X-linked recessive metabolic disorder characterized by severely delayed psychomotor development apparent in infancy. It is associated with failure to thrive, mental retardation, and intractable epilepsy. Additional features may include microcephaly and choreoathetosis (summary by Yu et al., 2013).

METHYLMALONIC ACIDEMIA WITH HOMOCYSTINURIA, TYPE CBLX Is also known as combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblx|mrx3|mental retardation, x-linked 3|methylmalonic aciduria with homocystinuria, type cblx

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about METHYLMALONIC ACIDEMIA WITH HOMOCYSTINURIA, TYPE CBLX

Other less relevant matches:

Cerebellofaciodental syndrome is an autosomal recessive neurodevelopmental disorder characterized by delayed development, intellectual disability, abnormal facial and dental findings, and cerebellar hypoplasia (summary by Borck et al., 2015).

CEREBELLAR-FACIAL-DENTAL SYNDROME Is also known as cerebellar-facial-dental syndrome|cerebellofaciodental syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about CEREBELLAR-FACIAL-DENTAL SYNDROME

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about SPINOCEREBELLAR ATAXIA 47; SCA47

Acromegaloid facial appearance (AFA) syndrome is a multiple congenital anomalies/dysmorphic syndrome (see this term) with a probable autosomal dominant inheritance, characterized by a progressively coarse acromegaloid-like facial appearance with thickening of the lips and intraoral mucosa, large and doughy hands and, in some cases, developmental delay. AFA syndrome appears to be part of a phenotypic spectrum that includes hypertrichotic osteochondrodysplasia, Cantu type and hypertrichosis-acromegaloid facial appearance syndrome (see these terms).

ACROMEGALOID FACIAL APPEARANCE SYNDROME Is also known as afa syndrome|thick lips and oral mucosa

Related symptoms:

  • Seizures
  • Hypertelorism
  • Micrognathia
  • Intellectual disability, mild
  • Coarse facial features


SOURCES: ORPHANET MENDELIAN

More info about ACROMEGALOID FACIAL APPEARANCE SYNDROME

X-linked intellectual disability, Turner type is characterised by moderate to severe intellectual deficit in boys and moderate intellectual deficit in girls. It has been described in 14 members from four generations of one family. Macrocephaly was reported and holoprosencephaly may also be present (two family members). The mode of transmission is X-linked semi-dominant.

X-LINKED INTELLECTUAL DISABILITY, TURNER TYPE Is also known as mental retardation and macrocephaly syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Spasticity
  • Flexion contracture


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY, TURNER TYPE

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 43; MRD43

PEHO-like syndrome is a rare, genetic neurological disease characterized by progressive encephalopathy, early-onset seizures with a hypsarrhythmic pattern, facial and limb edema, severe hypotonia, early arrest of psychomotor development and craniofacial dysmorphism (evolving microcephaly, narrow forehead, short nose, prominent auricles, open mouth, micrognathia), in the absence of neuro-ophthalmic or neuroradiologic findings. Poor visual responsiveness, growth failure and tapering fingers are also associated.

PEHO-LIKE SYNDROME Is also known as progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy-like syndrome

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Spasticity


SOURCES: OMIM ORPHANET MENDELIAN

More info about PEHO-LIKE SYNDROME

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

Top 5 symptoms//phenotypes associated to Intellectual disability and Tapered finger

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Microcephaly Uncommon - Between 30% and 50% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
Spasticity Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Intellectual disability and Tapered finger. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Abnormal facial shape Hypoplasia of the corpus callosum Narrow forehead Wide nasal bridge Short stature Low-set ears Hypertelorism Delayed speech and language development Epicanthus Cerebellar hypoplasia

Rare Symptoms - Less than 30% cases

Brachycephaly Poor speech Thin upper lip vermilion High palate Behavioral abnormality Anxiety Motor delay Chorea Ventriculomegaly Hypsarrhythmia Encephalopathy Intellectual disability, profound Scoliosis Short chin Absent speech Intellectual disability, mild Clinodactyly Visual impairment Optic atrophy Anteverted nares Sloping forehead Prominent nasal bridge Hyperreflexia Cerebral visual impairment Intellectual disability, severe Hypertonia Coarse facial features Obesity Syndactyly Downslanted palpebral fissures Retrognathia Synophrys Dental malocclusion Intellectual disability, moderate Hernia Cerebral atrophy Dystonia Hypotelorism Feeding difficulties Pointed chin Knee flexion contracture Abnormal lip morphology Flexion contracture Muscle weakness Abnormality of the fingernails Ankle contracture Abnormality of the tongue Limited elbow extension Absent nares Holoprosencephaly Macrocephaly Delayed gross motor development Female infertility Long fingers Long face Macroorchidism Thick nasal alae Hip dysplasia Constipation Downturned corners of mouth Progressive microcephaly Severe muscular hypotonia Central hypotonia Infantile encephalopathy Muscular hypotonia Clinodactyly of the 5th finger Cerebral cortical atrophy Abnormality of the pinna Generalized myoclonic seizures Open mouth Round face Congenital hypothyroidism Underdeveloped supraorbital ridges Malignant hyperthermia Congenital stationary night blindness Abnormality of brain morphology Horizontal eyebrow Large fleshy ears Pachygyria Status epilepticus Hyperactivity Palpebral edema Autism Narrow mouth High forehead Gastroesophageal reflux Umbilical hernia Autistic behavior Attention deficit hyperactivity disorder Wide nose Impulsivity Brain atrophy Edema Cerebellar atrophy Short nose Myoclonus Kyphoscoliosis Neonatal hypotonia Polymicrogyria Full cheeks Craniofacial hyperostosis Incoordination Long nose Acidosis Mixed hearing impairment Down-sloping shoulders Lacrimal duct stenosis Alacrima Mastoiditis Failure to thrive Aggressive behavior Cupped ear Hypermetropia Choreoathetosis Increased body weight Athetosis Methylmalonic aciduria Homocystinuria Methylmalonic acidemia Preauricular pit Cutaneous syndactyly Sparse hair Obsessive-compulsive behavior Nystagmus Strabismus Upslanted palpebral fissure Reduced visual acuity Protruding ear Optic disc pallor Visual field defect Scapular winging Hearing impairment Abnormality of the skeletal system Carious teeth Gliosis Blue sclerae Long eyelashes Microretrognathia Short neck Fine hair Large hands Bulbous nose Diplopia Cerebellar vermis atrophy Dilated fourth ventricle Micrognathia Blepharophimosis Joint hyperflexibility Thick eyebrow Epileptic encephalopathy Everted lower lip vermilion Highly arched eyebrow Macroglossia Thick lower lip vermilion Thickened skin Gingival overgrowth Abnormality of the metacarpal bones Generalized-onset seizure Progressive cerebellar ataxia Sparse and thin eyebrow Laryngeal stridor Laryngomalacia Sparse eyebrow Stridor Slender long bone Taurodontia Hypoplasia of the pons Macrodontia of permanent maxillary central incisor Small hand Ataxia Ptosis Cognitive impairment Dysarthria Gait ataxia Toe syndactyly Dysmetria Multifocal cerebral white matter abnormalities


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