Delayed speech and language development, and Joint hypermobility
Diseases related with Delayed speech and language development and Joint hypermobility
In the following list you will find some of the most common rare diseases related to Delayed speech and language development and Joint hypermobility that can help you solving undiagnosed cases.
Top matches:
Intellectual developmental disorder with persistence of fetal hemoglobin is characterized by delayed psychomotor development, intellectual disability, variable dysmorphic features, including microcephaly, downslanting palpebral fissures, strabismus, and external ear abnormalities, and asymptomatic persistence of fetal hemoglobin (HbF) (summary by Dias et al., 2016).Many of these features overlap with chromosome 2p16.1-p15 deletion syndrome (OMIM ).
INTELLECTUAL DEVELOPMENTAL DISORDER WITH PERSISTENCE OF FETAL HEMOGLOBIN Is also known as intellectual developmental disorder with hereditary persistence of fetal hemoglobin
Related symptoms:
- Autosomal dominant inheritance
- Intellectual disability
- Global developmental delay
- Microcephaly
- Strabismus
SOURCES:
MONDO
OMIM
UMLS
More info about INTELLECTUAL DEVELOPMENTAL DISORDER WITH PERSISTENCE OF FETAL HEMOGLOBIN
1p21.3 microdeletion syndrome is an extremely rare chromosomal anomaly characterized by severe speech and language delay, intellectual deficiency, autism spectrum disorder(see this term).
1P21.3 MICRODELETION SYNDROME Is also known as del(1)p(21.3); monosomy 1p21.3
Related symptoms:
- Intellectual disability
- Global developmental delay
- Micrognathia
- Delayed speech and language development
- Myopia
SOURCES:
ORPHANET
More info about 1P21.3 MICRODELETION SYNDROME
SPG53 is an autosomal recessive neurologic disorder characterized by onset in infancy of delayed motor development progressing to upper and lower limb spasticity with impaired walking. Affected individuals also show mild to moderate cognitive impairment (summary by Zivony-Elboum et al., 2012).
SPASTIC PARAPLEGIA 53, AUTOSOMAL RECESSIVE; SPG53 Is also known as ;spg53
Related symptoms:
- Autosomal recessive inheritance
- Global developmental delay
- Hearing impairment
- Microcephaly
- Failure to thrive
SOURCES:
DOID
OMIM
ORPHANET
UMLS
MONDO
More info about SPASTIC PARAPLEGIA 53, AUTOSOMAL RECESSIVE; SPG53
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Other less relevant matches:
CK syndrome (CKS) is an X-linked recessive disorder characterized by mild to severe cognitive impairment, seizures, microcephaly, cerebral cortical malformations, dysmorphic facial features, and thin body habitus. It is named after the first identified patient (summary by McLarren et al., 2010).CHILD syndrome (OMIM ) is an allelic disorder with a different phenotype.
CK SYNDROME Is also known as mental retardation, x-linked, with thin body habitus and cortical malformation;x-linked intellectual disability-microcephaly-cortical malformation-thin habitus syndrome
Related symptoms:
- Intellectual disability
- Seizures
- Global developmental delay
- Generalized hypotonia
- Pica
SOURCES:
OMIM
UMLS
ORPHANET
MONDO
More info about CK SYNDROME
The features of the chromosome 15q11-q13 duplication syndrome include autism, mental retardation, ataxia, seizures, developmental delays, and behavioral problems (Bundey et al., 1994; Burnside et al., 2011).See also chromosome 15q13.3 deletion syndrome (OMIM ) and chromosome 15q11.2 deletion syndrome (OMIM ).For a discussion of genetic heterogeneity of autism, see {209850}.
CHROMOSOME 15q11-q13 DUPLICATION SYNDROME Is also known as duplication 15q11-q13 syndrome;15q11-q13 duplication syndrome; 15q11-q13 microduplication syndrome; 15q11q13 duplication syndrome; dup(15)(q11q13); trisomy 15q11-q13; trisomy 15q11q13
Related symptoms:
- Autosomal dominant inheritance
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
SOURCES:
NCIT
SCTID
MONDO
OMIM
ORPHANET
UMLS
More info about CHROMOSOME 15q11-q13 DUPLICATION SYNDROME
Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome is a rare, genetic, non-acquired, combined pituitary hormone deficiency disorder characterized by panhypopituitarism (with or without ACTH deficiency) associated with spine abnormalities, including frequent rigid cervical spine and short neck with limited rotation, and variable degrees of sensorineural hearing loss. The anterior pituitary gland is usually abnormal (typically hypoplastic) and rarely a mild developmental delay or intellectual disability may be associated.
PITUITARY HORMONE DEFICIENCY, COMBINED, 3; CPHD3 Is also known as pituitary hormone deficiency, combined, with rigid cervical spine, deafness, sensorineural, with pituitary dwarfism;non-acquired combined pituitary hormone deficiency-deafness-rigid cervical spine syndrome
Related symptoms:
- Autosomal recessive inheritance
- Intellectual disability
- Short stature
- Generalized hypotonia
- Hearing impairment
SOURCES:
MESH
OMIM
MONDO
ORPHANET
UMLS
More info about PITUITARY HORMONE DEFICIENCY, COMBINED, 3; CPHD3
Okur-Chung neurodevelopmental syndrome is an autosomal dominant disorder characterized by delayed psychomotor development, intellectual disability with poor speech, behavioral abnormalities, cortical malformations in some patients, and variable dysmorphic facial features. Additional features, including microcephaly, gastrointestinal problems, and low levels of immunoglobulins, may be observed in some patients (Okur et al., 2016).
Related symptoms:
- Autosomal dominant inheritance
- Intellectual disability
- Seizures
- Global developmental delay
- Generalized hypotonia
SOURCES:
OMIM
UMLS
MONDO
More info about OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME; OCNDS
Intellectual developmental disorder with dysmorphic facies and ptosis is an autosomal dominant neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability, delayed language, and dysmorphic facial features, most notably ptosis/blepharophimosis. Additional features may include poor growth, hypotonia, and seizures (summary by Mattioli et al., 2017).See also chromosome 3p deletion syndrome (OMIM ).
Related symptoms:
- Autosomal dominant inheritance
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
SOURCES:
MONDO
EFO
UMLS
OMIM
More info about INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND PTOSIS; IDDDFP
Top 5 symptoms//phenotypes associated to Delayed speech and language development and Joint hypermobility
Symptoms // Phenotype |
% cases |
Global developmental delay |
Common - Between 50% and 80% cases
|
Intellectual disability |
Common - Between 50% and 80% cases
|
Generalized hypotonia |
Common - Between 50% and 80% cases
|
Microcephaly |
Common - Between 50% and 80% cases
|
Epicanthus |
Common - Between 50% and 80% cases
|
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Other less frequent symptoms
Patients with Delayed speech and language development and Joint hypermobility. may also develop some of the following symptoms:
Uncommon Symptoms - Between 30% and 50% cases
Pica
Autosomal dominant inheritance
Feeding difficulties
Wide nasal bridge
Strabismus
Seizures
Hypoplasia of the corpus callosum
Behavioral abnormality
Hypertelorism
Ptosis
Kyphosis
Short philtrum
Motor delay
Failure to thrive
Autosomal recessive inheritance
Wide mouth
Upslanted palpebral fissure
Scoliosis
High palate
Thin upper lip vermilion
Congenital onset
Micrognathia
Short stature
Autistic behavior
Joint laxity
Downslanted palpebral fissures
Rare Symptoms - Less than 30% cases
Myopathy
Spasticity
Gastroesophageal reflux
Narrow mouth
Macrocephaly
Clinodactyly
Joint hyperflexibility
Agenesis of corpus callosum
Abnormality of cardiovascular system morphology
Anteverted nares
Autism
Retrognathia
Posteriorly rotated ears
Cognitive impairment
Hearing impairment
Growth delay
Attention deficit hyperactivity disorder
Aggressive behavior
Cryptorchidism
Low-set ears
Ataxia
Pachygyria
Shyness
Camptodactyly
Hyperlordosis
Severe expressive language delay
Jaundice
Sensorineural hearing impairment
Impaired ability to form peer relationships
Micropenis
Expressive language delay
Inflexible adherence to routines or rituals
Short neck
Abnormality of the skeletal system
Severe short stature
Poor motor coordination
Status epilepticus
Lack of spontaneous play
Apraxia
EEG abnormality
Sporadic
Anxiety
Apnea
Developmental regression
Finger syndactyly
Lactic acidosis
Lethargy
Thick vermilion border
Focal seizures
Febrile seizures
Intellectual disability, profound
Restrictive behavior
Epileptic encephalopathy
Stereotypy
Childhood onset
Emotional lability
Mask-like facies
Focal seizures with impairment of consciousness or awareness
Aphasia
Obsessive-compulsive behavior
Multifactorial inheritance
Hyperventilation
Increased serum serotonin
Impaired use of nonverbal behaviors
Skeletal dysplasia
Lumbar kyphosis
Carious teeth
Blepharophimosis
IgG deficiency
Protruding tongue
Abnormal facial shape
Milia
Intrauterine growth retardation
Edema
Talipes equinovarus
Long philtrum
Abnormality of the pinna
Broad forehead
IgA deficiency
Abnormality of the cerebral white matter
Flat face
Downturned corners of mouth
Round face
Phimosis
Language impairment
Bilateral ptosis
Vertebral fusion
Unilateral cryptorchidism
Abnormal myelination
Atonic seizures
Cortical gyral simplification
Growth hormone deficiency
Anterior pituitary hypoplasia
Small nail
Cyanosis
Hyperextensible skin
Increased body weight
Hypopituitarism
Thoracic kyphosis
Panhypopituitarism
Pituitary hypothyroidism
Adrenocorticotropic hormone deficiency
Gonadotropin deficiency
Cerebral cortical atrophy
Decreased antibody level in blood
Pituitary dwarfism
Prolactin deficiency
Abnormal anterior horn cell morphology
Thoracolumbar kyphoscoliosis
Hypothalamic luteinizing hormone-releasing hormone deficiency
Brachydactyly
Dysphagia
Constipation
Synophrys
Highly arched eyebrow
Acidosis
Minicore myopathy
Depressivity
Hyperreflexia in upper limbs
Difficulty walking
Pectus carinatum
Spastic paraplegia
Paraplegia
Hypertrichosis
Impaired vibratory sensation
Cortical dysplasia
Limb dystonia
Impaired proprioception
Abnormality of the auditory canal
Dystonia
Upper limb hypertonia
Ventricular septal defect
Atrial septal defect
Abnormal heart morphology
Mild microcephaly
Periventricular leukomalacia
Small cerebral cortex
Aplasia of the inferior half of the cerebellar vermis
Muscle weakness
Clonus
Hypertonia
Respiratory insufficiency
Obesity
Cerebellar atrophy
Midface retrusion
Everted lower lip vermilion
Blue sclerae
Overfolded helix
Cupped ear
Myopia
Short nose
Intellectual disability, mild
Deeply set eye
Gait disturbance
Astigmatism
Full cheeks
Broad nasal tip
Abnormality of vision
Self-injurious behavior
Self-mutilation
Long ear
Abnormal eating behavior
Ventriculomegaly
Flexion contracture
Pectus excavatum
Heterogeneous
Sleep disturbance
Gastrostomy tube feeding in infancy
Abnormal elasticity of skin
Malar flattening
X-linked recessive inheritance
Hyperactivity
Prominent nasal bridge
Irritability
Polymicrogyria
Long face
Dental crowding
Generalized joint laxity
Narrow face
Abnormality of digit
Abnormal cortical bone morphology
Slender build
Almond-shaped palpebral fissure
Muscular hypotonia
Tics
Clinodactyly of the 5th finger
Encephalopathy
Pes valgus
Follicular hyperkeratosis
Recurrent respiratory infections
Poor head control
Respiratory failure
Hyperkeratosis
Neonatal hypotonia
Muscular dystrophy
Delayed puberty
Limb muscle weakness
Dry skin
Respiratory insufficiency due to muscle weakness
EMG: myopathic abnormalities
Severe muscular hypotonia
Overweight
Increased variability in muscle fiber diameter
Congenital muscular dystrophy
Congenital contracture
Mildly elevated creatine phosphokinase
Multiple joint contractures
Spinal rigidity
Centrally nucleated skeletal muscle fibers
Neck muscle weakness
Weak cry
Round ear
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