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:

Low match INTELLECTUAL DEVELOPMENTAL DISORDER WITH PERSISTENCE OF FETAL HEMOGLOBIN

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

Low match 1P21.3 MICRODELETION SYNDROME

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

Low match SPASTIC PARAPLEGIA 53, AUTOSOMAL RECESSIVE; SPG53

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:

Low match MUSCULAR DYSTROPHY, CONGENITAL, DAVIGNON-CHAUVEAU TYPE; MDCDC

MUSCULAR DYSTROPHY, CONGENITAL, DAVIGNON-CHAUVEAU TYPE; MDCDC Is also known as ;congenital muscular dystrophy, davignon-chauveau type

Related symptoms:

  • Autosomal recessive inheritance
  • Generalized hypotonia
  • Scoliosis
  • Motor delay
  • Cryptorchidism


SOURCES: MONDO OMIM ORPHANET UMLS

More info about MUSCULAR DYSTROPHY, CONGENITAL, DAVIGNON-CHAUVEAU TYPE; MDCDC

Low match CK SYNDROME

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

Low match CHROMOSOME 15q11-q13 DUPLICATION 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

Low match PITUITARY HORMONE DEFICIENCY, COMBINED, 3; CPHD3

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

Low match OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME; OCNDS

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

Low match INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND PTOSIS; IDDDFP

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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