Delayed speech and language development, and Joint hyperflexibility

Diseases related with Delayed speech and language development and Joint hyperflexibility

In the following list you will find some of the most common rare diseases related to Delayed speech and language development and Joint hyperflexibility that can help you solving undiagnosed cases.


Top matches:

High 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

High 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

High match CEREBRAL CREATINE DEFICIENCY SYNDROME 1; CCDS1

Cerebral creatine deficiency syndrome-1 is an X-linked disorder of creatine (Cr) transport characterized by mental retardation, severe speech delay, behavioral abnormalities, and seizures. It has a prevalence of 0.3 to 3.5% in males. Carrier females may show mild neuropsychologic impairment (summary by van de Kamp et al., 2011). Genetic Heterogeneity of Cerebral Creatine Deficiency SyndromeSee also CCDS2 (OMIM ), caused by mutation in the GAMT gene (OMIM ) on chromosome 19p13, and CCDS3 (OMIM ), caused by mutation in the AGAT gene (GATM ) on chromosome 15q21.

CEREBRAL CREATINE DEFICIENCY SYNDROME 1; CCDS1 Is also known as creatine deficiency syndrome, x-linked, creatine transporter defect, mental retardation, x-linked, with seizures, short stature, and midface hypoplasia, mental retardation, x-linked, with creatine transport deficiency;creatine transporter deficiency; slc6a8 deficiency

Related symptoms:

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


SOURCES: GARD SCTID MESH DOID OMIM NCIT ORPHANET MONDO UMLS

More info about CEREBRAL CREATINE DEFICIENCY SYNDROME 1; CCDS1

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Other less relevant matches:

High match CRANIOLENTICULOSUTURAL DYSPLASIA; CLSD

Craniolenticulosutural dysplasia (CLSD), also known as Boyadjiev-Jabs syndrome, is characterized by the specific association of large and late-closing fontanels, hypertelorism, early-onset cataract and mild generalized skeletal dysplasia.

CRANIOLENTICULOSUTURAL DYSPLASIA; CLSD Is also known as boyadjiev-jabs syndrome;boyadjiev-jabs syndrome

Related symptoms:

  • Autosomal recessive inheritance
  • Short stature
  • Scoliosis
  • Hypertelorism
  • Failure to thrive


SOURCES: OMIM SCTID UMLS MESH MONDO ORPHANET

More info about CRANIOLENTICULOSUTURAL DYSPLASIA; CLSD

Medium match MENTAL RETARDATION, X-LINKED, SYNDROMIC, CHRISTIANSON TYPE; MRXSCH

Christianson syndrome is an X-linked neurodevelopmental and progressive mental retardation syndrome characterized by microcephaly, impaired ocular movements, severe global developmental delay, developmental regression, hypotonia, abnormal movements, and early-onset seizures of variable types. Female carriers may be mildly affected (summary by Schroer et al., 2010 and Pescosolido et al., 2014).

MENTAL RETARDATION, X-LINKED, SYNDROMIC, CHRISTIANSON TYPE; MRXSCH Is also known as angelman-like syndrome, x-linked, mental retardation, microcephaly, epilepsy, and ataxia syndrome;x-linked angelman-like syndrome; x-linked intellectual disability, south african type; x-linked intellectual disability-craniofacial dysmorphism-epilepsy-ophthalmoplegia-cerebellar atrophy syndrome

Related symptoms:

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


SOURCES: ORPHANET MONDO GARD OMIM DOID UMLS MESH SCTID

More info about MENTAL RETARDATION, X-LINKED, SYNDROMIC, CHRISTIANSON TYPE; MRXSCH

Medium match GERODERMA OSTEODYSPLASTICUM; GO

Geroderma osteodysplastica (GO) is characterized by lax and wrinkled skin (especially on the dorsum of the hands and feet and abdomen), progeroid features, hip dislocation, joint laxity, severe short stature/dwarfism, severe osteoporosis, vertebral abnormalities and spontaneous fractures, and developmental delay and mild intellectual deficit.

GERODERMA OSTEODYSPLASTICUM; GO Is also known as gerodermia osteodysplastica, walt disney dwarfism;

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Global developmental delay
  • Microcephaly
  • Scoliosis


SOURCES: SCTID MESH OMIM ORPHANET MONDO GARD UMLS

More info about GERODERMA OSTEODYSPLASTICUM; GO

Medium match CHROMOSOME 17q11.2 DELETION SYNDROME, 1.4-MB

Approximately 5 to 20% of all patients with neurofibromatosis type I (OMIM ) carry a heterozygous deletion of approximately 1.4 Mb involving the NF1 gene and contiguous genes lying in its flanking regions (Riva et al., 2000; Jenne et al., 2001), which is caused by nonallelic homologous recombination of NF1 repeats A and C (Dorschner et al., 2000). The 'NF1 microdeletion syndrome' is often characterized by a more severe phenotype than that observed in the majority of NF1 patients. In particular, patients with NF1 microdeletion often show variable facial dysmorphism, mental retardation, developmental delay, an excessive number of early-onset neurofibromas (Venturin et al., 2004), and an increased risk for malignant peripheral nerve sheath tumors (De Raedt et al., 2003).

CHROMOSOME 17q11.2 DELETION SYNDROME, 1.4-MB Is also known as neurofibromatosis 1 microdeletion syndrome, nf1 microdeletion syndrome, van asperen syndrome;dup(17)(q11.2); grisart-destrée syndrome; trisomy 17q11.2

Related symptoms:

  • Autosomal dominant inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature


SOURCES: GARD ORPHANET DOID OMIM MONDO

More info about CHROMOSOME 17q11.2 DELETION SYNDROME, 1.4-MB

Medium match SHORT SYNDROME

'Short,' the mnemonic designation for this syndrome, is an acronym: S = stature; H = hyperextensibility of joints or hernia (inguinal) or both; O = ocular depression; R = Rieger anomaly; T = teething delay. The name was given by Gorlin (1975), who described the syndrome in 2 brothers.Dyment et al. (2013) noted that the features listed in the acronym for SHORT syndrome do not capture the full range of the clinical phenotype, which can include a recognizable facial gestalt consisting of triangular facies, lack of facial fat, and hypoplastic nasal alae with overhanging columella, as well as near-universal partial lipodystrophy, insulin resistance, nephrocalcinosis, and hearing deficits. Notably, both developmental milestones and cognition are normal for individuals with SHORT syndrome.

SHORT SYNDROME Is also known as short stature, hyperextensibility, hernia, ocular depression, rieger anomaly, and teething delay, lipodystrophy, partial, with rieger anomaly and short stature;aarskog-ose-pande syndrome; lipodystrophy-rieger anomaly-diabetes syndrome; rieger anomaly-partial lipodystrophy syndrome

Related symptoms:

  • Autosomal dominant inheritance
  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Pica


SOURCES: OMIM GARD ORPHANET UMLS MESH MONDO

More info about SHORT SYNDROME

Medium match CHROMOSOME 3q29 DELETION SYNDROME

3q29 microdeletion syndrome is a recurrent subtelomeric deletion syndrome with variable clinical manifestations including intellectual deficit and dysmorphic features.

CHROMOSOME 3q29 DELETION SYNDROME Is also known as microdeletion 3q29 syndrome;3q subtelomere deletion syndrome; 3qter deletion; del(3)(q29); monosomy 3q29; monosomy 3qter

Related symptoms:

  • Autosomal dominant inheritance
  • Intellectual disability
  • Global developmental delay
  • Pica
  • Microcephaly


SOURCES: OMIM MONDO ORPHANET UMLS SCTID MESH GARD DOID

More info about CHROMOSOME 3q29 DELETION SYNDROME

Medium match TEMTAMY SYNDROME; TEMTYS

Temtamy syndrome is a mental retardation/multiple congenital anomaly syndrome characterized by variable craniofacial dysmorphism, ocular coloboma, seizures, and brain abnormalities, including abnormalities of the corpus callosum and thalamus (summary by Akizu et al., 2013).

TEMTAMY SYNDROME; TEMTYS Is also known as mental retardation with or without craniofacial dysmorphism, ocular coloboma, or abnormal corpus callosum;craniofacial dysmorphism-coloboma-corpus callosum agenesis syndrome; temtamy-shalash syndrome

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature


SOURCES: SCTID GARD MESH UMLS ORPHANET NCIT OMIM MONDO

More info about TEMTAMY SYNDROME; TEMTYS

Top 5 symptoms//phenotypes associated to Delayed speech and language development and Joint hyperflexibility

Symptoms // Phenotype % cases
Global developmental delay Very Common - Between 80% and 100% cases
Intellectual disability Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases
Macrocephaly Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Delayed speech and language development and Joint hyperflexibility. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Malar flattening Generalized hypotonia Seizures Abnormal facial shape Failure to thrive Cognitive impairment Cataract Pica Ataxia Autosomal dominant inheritance Attention deficit hyperactivity disorder Muscular hypotonia Hypertelorism Autosomal recessive inheritance Long face Frontal bossing Micrognathia Hearing impairment Motor delay Spasticity Intellectual disability, mild Autism Joint laxity Stereotypy Intellectual disability, profound Absent speech Hip dislocation Hernia Midface retrusion Milia Mandibular prognathia Ptosis Deeply set eye Intellectual disability, moderate Joint hypermobility Narrow face Scoliosis Macrotia Gait ataxia Oxycephaly Pes planus Gastroesophageal reflux Thin upper lip vermilion Pectus excavatum Nystagmus Microcornea Intellectual disability, severe Wide nasal bridge Behavioral abnormality Abnormal heart morphology Facial asymmetry Hypoplasia of the corpus callosum Dystonia Pectus carinatum Clinodactyly of the 5th finger Sporadic Gait disturbance Low-set ears Ventriculomegaly Downslanted palpebral fissures Depressivity

Rare Symptoms - Less than 30% cases


Telecanthus Clinodactyly Microphthalmia Premature skin wrinkling Small for gestational age Cachexia Inguinal hernia Redundant skin Patent ductus arteriosus Congenital hip dislocation Abnormality of the dentition Epicanthus Myopia Short philtrum Tall stature Open mouth Brachydactyly Aplasia/Hypoplasia of the corpus callosum Sensorineural hearing impairment Coloboma Anxiety Coarse facial features Pulmonic stenosis Bilateral sensorineural hearing impairment Prominent supraorbital ridges Growth delay Strabismus Microdontia Prominent nose Esotropia Hypoplasia of the maxilla Delayed eruption of teeth Abnormality of skin pigmentation Thin vermilion border Abnormality of the eye Corneal opacity Narrow chest Prominent nasal bridge Hypertonia Clonus Osteopenia Prominent forehead Long philtrum High palate Abnormality of the skeletal system Optic atrophy Hypoplasia of teeth Encephalopathy Iris coloboma Nevus EEG abnormality Infantile onset Epileptic encephalopathy Abnormality of dental enamel Cerebral cortical atrophy Severe short stature Dental malocclusion Autistic behavior Wide mouth Pes cavus Ophthalmoplegia Developmental regression Abnormality of cardiovascular system morphology Hyperactivity Mask-like facies Thin skin Tics Feeding difficulties in infancy Aggressive behavior Dental crowding Sparse eyelashes Short palm Cafe-au-lait spot Biconcave vertebral bodies Neurofibrosarcoma Hypoplasia of dental enamel Downturned corners of mouth Triangular face Overgrowth Sparse and thin eyebrow Fibroma Abnormality of the skin Hypodontia Specific learning disability Underdeveloped nasal alae Hypotrichosis Abnormality of the face Large hands Broad neck Abnormal bone ossification Insulin resistance Deviated nasal septum Spinal neurofibromas Coma Inguinal freckling Focal T2 hyperintense basal ganglia lesion Plexiform neurofibroma Subcutaneous neurofibromas Delayed skeletal maturation Alopecia Optic nerve glioma Glaucoma Diabetes mellitus Weight loss Neurofibromas Neurological speech impairment Axillary freckling Lisch nodules Overbite Bifid nose Neoplasm Thick nasal alae Bone cyst Long foot Stooped posture Alopecia of scalp Pseudoepiphyses Macroorchidism Intrauterine growth retardation Abnormal cornea morphology Opacification of the corneal stroma Talipes equinovarus Dolichocephaly Mental deterioration Hydronephrosis Upslanted palpebral fissure Agenesis of corpus callosum Dilatation Congestive heart failure Atrial septal defect Ventricular septal defect Convex nasal ridge Visual impairment Depressed nasal bridge Six lumbar vertebrae Subvalvular aortic stenosis Broad face Bipolar affective disorder Shallow orbits Nasal speech Highly arched eyebrow Renal agenesis Sandal gap Retinal coloboma Short 2nd toe Scleral staphyloma Lop ear Short upper lip Colpocephaly Neurogenic bladder Profound global developmental delay Congenital nystagmus Unilateral renal agenesis Thick lower lip vermilion Ectopia lentis Relative macrocephaly Genu varum Aortic aneurysm Chorioretinal coloboma Abnormal palate morphology Aortic regurgitation Short toe Progressive visual loss Aspiration Horseshoe kidney Nephrocalcinosis Congenital glaucoma Excessive wrinkled skin Abnormal pupil morphology Increased intraocular pressure Posterior embryotoxon Insulin-resistant diabetes mellitus Hypoplasia of the iris Poor appetite Megalocornea Lipoatrophy Abnormal anterior chamber morphology Reduced subcutaneous adipose tissue Abnormality of the immune system Glucose intolerance Hyperglycemia Increased body weight Short chin Radial deviation of finger Lipodystrophy Calcinosis Dimple chin Rieger anomaly Anorexia Everted lower lip vermilion Aortic valve stenosis Pulmonary arterial hypertension Recurrent otitis media Otitis media Psychosis Oral cleft Single transverse palmar crease Tapered finger Cleft lip Birth length less than 3rd percentile Abnormality of the genital system Posteriorly rotated ears Hypospadias Short nose Hypertension Abnormality of the zygomatic bone Hypoplastic facial bones Abnormality of the mandible Enlarged epiphyses Hyperextensibility of the finger joints Postnatal microcephaly Periodontitis Parkinsonism Clumsiness Exotropia Aganglionic megacolon Choreoathetosis Athetosis Delayed myelination Chorea Hypermetropia Language impairment Broad forehead Irritability Neonatal hypotonia Muscular hypotonia of the trunk Constipation X-linked recessive inheritance Vomiting External ophthalmoplegia Myopathic facies Feeding difficulties Underfolded superior helices Smooth philtrum Carious teeth Sparse hair Skeletal dysplasia Anteverted nares Cryptorchidism Cleft palate Poor hand-eye coordination Chronic constipation Red eye Abnormality of creatine metabolism Duodenal ulcer Urethral stenosis Impaired social interactions Ileus Speech apraxia Self-mutilation Abnormality of metabolism/homeostasis Severe expressive language delay Bifid uvula Hyperreflexia in upper limbs Lactic acidosis Finger syndactyly Apnea Acidosis Heterogeneous Upper limb hypertonia Abnormality of the auditory canal Impaired proprioception Thick vermilion border Limb dystonia Cortical dysplasia Impaired vibratory sensation Hypertrichosis Paraplegia Spastic paraplegia Difficulty walking Kyphosis Lethargy Focal seizures Poor motor coordination Increased serum serotonin Impaired ability to form peer relationships Shyness Expressive language delay Inflexible adherence to routines or rituals Lack of spontaneous play Restrictive behavior Impaired use of nonverbal behaviors Hyperventilation Febrile seizures Multifactorial inheritance Obsessive-compulsive behavior Aphasia Focal seizures with impairment of consciousness or awareness Emotional lability Childhood onset Status epilepticus Apraxia Wide nose Large fontanelles Beaking of vertebral bodies Dyslexia Loss of ability to walk in first decade Conspicuously happy disposition Photosensitive tonic-clonic seizures Inappropriate laughter Death in early adulthood Happy demeanor Abnormality of the nose Hyperkinesis Kyphoscoliosis Slender finger Atrophy/Degeneration affecting the brainstem Bowel incontinence Long nose Dysphasia Decreased muscle mass Infantile muscular hypotonia Osteoporosis Camptodactyly Aplasia/Hypoplasia of the cerebellum Abnormality of the outer ear Vertebral compression fractures Progeroid facial appearance Protuberant abdomen Irregular vertebral endplates Prematurely aged appearance Femoral bowing Tibial bowing Hyperextensible skin Platyspondyly Abnormality of vision Cutis laxa Wormian bones Bowing of the long bones Abnormality of epiphysis morphology Abnormal form of the vertebral bodies Recurrent fractures Talipes Abnormality of the thorax Involuntary movements Hyperpigmentation of the skin Sutural cataract Pain Flexion contracture Forehead hyperpigmentation Punctate cataract Posterior wedging of vertebral bodies Posterior Y-sutural cataract High iliac wings Narrow iliac wings Skeletal muscle atrophy Delayed closure of the anterior fontanelle Decreased skull ossification Capillary hemangioma Premature loss of teeth Brittle hair Coarse hair Hemangioma Wide anterior fontanel Hyperreflexia Dysphagia Mutism Urinary incontinence Adducted thumb Drooling Intellectual disability, progressive Truncal ataxia Decreased body weight Generalized seizures X-linked dominant inheritance Neuronal loss in central nervous system Cerebellar atrophy Sleep disturbance Poor speech Abnormality of eye movement Unsteady gait Thick eyebrow Abnormality of the foot Severe global developmental delay Arthrogryposis multiplex congenita Posterior staphyloma


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