Delayed speech and language development, and Overgrowth

Diseases related with Delayed speech and language development and Overgrowth

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


Top matches:

High match SOTOS SYNDROME 2; SOTOS2

Malan overgrowth syndrome is a multiple congenital anomalies syndrome characterized by moderate postnatal overgrowth, macrocephaly, craniofacial dysmorphism (including high forehead and anterior hairline, downslanting palpebral fissures, prominent chin), developmental delay, and intellectual disability. Additional variable manifestations include unusual behavior, with or without autistic traits, as well as ocular (e.g. strabismus, nystagmus, optic disc pallor/hypoplasia), gastrointestinal (e.g. vomiting, chronic diarrhea, constipation), musculoskeletal (e.g. scoliosis and pectus excavatum), hand/foot (e.g. long, tapered fingers) and central nervous system (e.g. slightly enlarged ventricles) anomalies.

SOTOS SYNDROME 2; SOTOS2 Is also known as malan syndrome;sotos syndrome 2

Related symptoms:

  • Autosomal dominant inheritance
  • Intellectual disability
  • Generalized hypotonia
  • Scoliosis
  • Nystagmus


SOURCES: ORPHANET UMLS OMIM MONDO

More info about SOTOS SYNDROME 2; SOTOS2

High match EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 31; EIEE31

Related symptoms:

  • Autosomal dominant inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia


SOURCES: MONDO UMLS OMIM

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 31; EIEE31

High match MACROCEPHALY, DYSMORPHIC FACIES, AND PSYCHOMOTOR RETARDATION; MDFPMR

Macrocephaly, dysmorphic facies, and psychomotor retardation (MDFPMR) is an autosomal recessive neurodevelopmental disorder characterized by large head and somatic overgrowth apparent at birth followed by global developmental delay. Affected individuals have characteristic dysmorphic facial features and persistently large head, but increased birth weight normalizes with age. Additional neurologic features, including seizures, hypotonia, and gait ataxia, may also occur. Patients show severe intellectual impairment (summary by Ortega-Recalde et al., 2015).

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia


SOURCES: UMLS OMIM

More info about MACROCEPHALY, DYSMORPHIC FACIES, AND PSYCHOMOTOR RETARDATION; MDFPMR

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Other less relevant matches:

High match OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE

OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE Is also known as oddd, autosomal recessive, oculodentoosseous dysplasia, autosomal recessive, odod, autosomal recessive

Related symptoms:

  • Autosomal recessive inheritance
  • Global developmental delay
  • Short stature
  • Pica
  • Micrognathia


SOURCES: GARD OMIM UMLS MESH MONDO

More info about OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE

High match LUSCAN-LUMISH SYNDROME; LLS

Luscan-Lumish syndrome is characterized by macrocephaly, intellectual disability, speech delay, low sociability, and behavioral problems. More variable features include postnatal overgrowth, obesity, advanced carpal ossification, developmental delay, and seizures (Luscan et al., 2014; Lumish et al., 2015)

Related symptoms:

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


SOURCES: MONDO OMIM UMLS

More info about LUSCAN-LUMISH SYNDROME; LLS

Medium match TENORIO SYNDROME; TNORS

Tenorio syndrome is characterized by overgrowth, macrocephaly, and intellectual disability (ID). Some patients may have mild hydrocephaly, hypoglycemia, and inflammatory diseases resembling Sjogren syndrome (OMIM ) (summary by Tenorio et al., 2014).

TENORIO SYNDROME; TNORS Is also known as overgrowth, macrocephaly, and intellectual disability syndrome

Related symptoms:

  • Autosomal dominant inheritance
  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Scoliosis


SOURCES: MONDO UMLS OMIM

More info about TENORIO SYNDROME; TNORS

Medium match SPASTIC PARAPLEGIA 20, AUTOSOMAL RECESSIVE; SPG20

gene (13q13.1), which encodes the protein spartin.

SPASTIC PARAPLEGIA 20, AUTOSOMAL RECESSIVE; SPG20 Is also known as troyer syndrome, spastic paraparesis, childhood-onset, with distal muscle wasting, spastic paraplegia, autosomal recessive, troyer type;childhood-onset spastic paraparesis-distal muscle wasting syndrome; spg20; troyer syndrome

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: DOID ORPHANET MESH GARD OMIM MONDO SCTID UMLS

More info about SPASTIC PARAPLEGIA 20, AUTOSOMAL RECESSIVE; SPG20

Medium match ANGELMAN SYNDROME; AS

Angelman syndrome is a neurodevelopmental disorder characterized by mental retardation, movement or balance disorder, typical abnormal behaviors, and severe limitations in speech and language. Most cases are caused by absence of a maternal contribution to the imprinted region on chromosome 15q11-q13. Prader-Willi syndrome (PWS ) is a clinically distinct disorder resulting from paternal deletion of the same 15q11-q13 region. In addition, the chromosome 15q11-q13 duplication syndrome (OMIM ) shows overlapping clinical features.Clayton-Smith and Pembrey (1992) provided a review of Angelman syndrome. Cassidy and Schwartz (1998) reviewed the molecular and clinical aspects of both Prader-Willi syndrome and Angelman syndrome. Horsthemke and Wagstaff (2008) provided a detailed review of the mechanisms of imprinting of the Prader-Willi/Angelman syndrome region.Van Buggenhout and Fryns (2009) provided a review of Angelman syndrome and discussed genetic counseling of the disorder, which can show a recurrence risk of up to 50%, depending on the underlying genetic mechanism.

ANGELMAN SYNDROME; AS Is also known as happy puppet syndrome, formerly

Related symptoms:

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


SOURCES: SCTID ICD10 ORPHANET OMIM UMLS

More info about ANGELMAN SYNDROME; AS

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 FRAGILE X SYNDROME; FXS

Fragile X syndrome is characterized by moderate to severe mental retardation, macroorchidism, and distinct facial features, including long face, large ears, and prominent jaw. In most cases, the disorder is caused by the unstable expansion of a CGG repeat in the FMR1 gene and abnormal methylation, which results in suppression of FMR1 transcription and decreased protein levels in the brain (Devys et al., 1993). ReviewsFragile X syndrome accounts for about one-half of cases of X-linked mental retardation and is the second most common cause of mental impairment after trisomy 21 (OMIM ) (Rousseau et al., 1995).McCabe et al. (1999) summarized the proceedings of a workshop on the fragile X syndrome held in December 1998.Jacquemont et al. (2007) provided a review of fragile X syndrome, which they characterized as a neurodevelopmental disorder, and FXTAS, which they characterized as a neurodegenerative disorder.

FRAGILE X SYNDROME; FXS Is also known as fragile x mental retardation syndrome, mental retardation, x-linked, associated with marxq28, x-linked mental retardation and macroorchidism, marker x syndrome, martin-bell syndrome;fraxa syndrome; fxs; frax syndrome; martin-bell syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Pica
  • Scoliosis


SOURCES: ORPHANET OMIM SCTID ICD10 UMLS

More info about FRAGILE X SYNDROME; FXS

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

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Generalized hypotonia Very Common - Between 80% and 100% cases
Macrocephaly Common - Between 50% and 80% cases
Scoliosis Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Seizures

Uncommon Symptoms - Between 30% and 50% cases


Oxycephaly

Common Symptoms - More than 50% cases


Pica

Uncommon Symptoms - Between 30% and 50% cases


Anxiety

Common Symptoms - More than 50% cases


Mandibular prognathia

Uncommon Symptoms - Between 30% and 50% cases


Autosomal dominant inheritance

Common Symptoms - More than 50% cases


Motor delay

Uncommon Symptoms - Between 30% and 50% cases


Downslanted palpebral fissures Absent speech Short stature Strabismus Cerebral cortical atrophy High forehead Ventriculomegaly Long face Hypertelorism Low-set ears Large hands Pectus excavatum Gait ataxia Malar flattening Attention deficit hyperactivity disorder Cerebellar atrophy Hydrocephalus Myopia Autosomal recessive inheritance Frontal bossing Autistic behavior Muscular hypotonia Nevus Abnormal cerebellum morphology Long foot Cognitive impairment Microcephaly Self-injurious behavior Gastroesophageal reflux Obesity Hyperactivity Autism Joint hypermobility Polyphagia Clinodactyly Difficulty walking Behavioral abnormality

Rare Symptoms - Less than 30% cases


Brachycephaly Macroorchidism Short foot Thin vermilion border Large forehead Telecanthus Neurological speech impairment Cerebral palsy Epicanthus Flat occiput Failure to thrive Micrognathia Long fingers Spasticity Sporadic Hypoplasia of the maxilla Joint laxity Clumsiness Atrial septal defect Hyperkinesis Nystagmus Narrow mouth Aggressive behavior Hypermetropia Dilatation Astigmatism Shyness Abnormality of the skeletal system Narrow face Coarse facial features Macroglossia Long nose Sparse eyelashes Abnormality of dental enamel Facial asymmetry Hyperreflexia Wide mouth Intellectual disability, mild Kyphoscoliosis Sleep disturbance Specific learning disability Epileptic spasms Hearing impairment Dental crowding Ptosis Kyphosis Overbite Abnormal facial shape Feeding difficulties Prominent forehead Macrotia Pes planus Encephalopathy Slurred speech Constipation Intellectual disability, severe Pes cavus Drooling Triangular face Tall stature Tics Keratoconus Inguinal hernia Aspiration Widely spaced teeth Albinism Broad-based gait Incoordination Feeding difficulties in infancy Atonic seizures Hyperplasia of midface Drowsiness Protruding tongue Ataxia Overweight Morphea Intellectual disability, progressive EEG abnormality Vomiting Upper limb spasticity Hyperextensible hand joints Dysuria Status epilepticus Exotropia Focal seizures Deeply set eye Abnormality of the thumb Abnormality of movement Fever Optic atrophy Falls Speech apraxia Abnormality of the nares Infertility Hypopigmentation of the skin Postnatal microcephaly Intellectual disability, profound Abnormal hand morphology Abnormality of brain morphology Generalized seizures Abnormality of the face Knee clonus Sensorineural hearing impairment Spastic dysarthria Panic attack Suicidal ideation Neurofibromas Blue irides Spontaneous abortion Heterotopia Hyperpigmentation of the skin Sinusitis X-linked dominant inheritance Otitis media Mitral valve prolapse Thick vermilion border Relative macrocephaly Postural instability Round face Protruding ear Neonatal hypotonia Intellectual disability, moderate Depressivity Midface retrusion Premature ovarian insufficiency Chronic otitis media Deviated nasal septum Abnormal head movements Severe temper tantrums Congenital macroorchidism Encopresis Increased size of the mandible Macroorchidism, postpubertal Finger joint hypermobility Oppositional defiant disorder Periventricular gray matter heterotopia Abnormality of neuronal migration Irregular dentition Mood swings Hyperextensibility of the finger joints Ascending tubular aorta aneurysm Enuresis Poor eye contact Broad palm Neurofibrosarcoma Spinal neurofibromas Fair hair Tongue thrusting Abnormal heart morphology Abnormality of cardiovascular system morphology Neoplasm Anisometropia Paroxysmal bursts of laughter Sleep-wake cycle disturbance Large foramen magnum Coloboma Inappropriate laughter Limb tremor Happy demeanor Moderate global developmental delay Profound global developmental delay Progressive gait ataxia Short attention span Thin upper lip vermilion Joint hyperflexibility Inguinal freckling Thick nasal alae Focal T2 hyperintense basal ganglia lesion Plexiform neurofibroma Subcutaneous neurofibromas Optic nerve glioma Axillary freckling Lisch nodules Bifid nose Bone cyst Iris coloboma Broad neck Alopecia of scalp Scleroderma Fibroma Cafe-au-lait spot Sparse and thin eyebrow Hypoplasia of dental enamel Upper limb muscle weakness Stomatitis Premature loss of teeth Delayed eruption of teeth Communicating hydrocephalus Slender build Long neck Expressive language delay Metopic synostosis Thick corpus callosum Severe expressive language delay Cataract Long philtrum Abnormality of the dentition Microphthalmia Delayed skeletal maturation Syndactyly Toe syndactyly Microcornea Disproportionate tall stature Hyperostosis Hypoplasia of teeth Mild global developmental delay Large earlobe Spinal cord compression Narrow nose Basal ganglia calcification Abnormality of dental morphology Small hand Fine hair Large fontanelles Sparse scalp hair Short palpebral fissure Dental malocclusion Underdeveloped nasal alae Megalencephaly Sparse eyebrow Cranial hyperostosis Sandal gap Everted lower lip vermilion Accelerated skeletal maturation Coxa valga Cutis marmorata Advanced eruption of teeth Visual impairment Arrhythmia Cerebral atrophy Developmental regression Cortical visual impairment Hypsarrhythmia Epileptic encephalopathy Inability to walk Gingival overgrowth Short finger Lumbar hyperlordosis Upslanted palpebral fissure High myopia Arachnodactyly Prominent nasal bridge Hyperlordosis Proptosis Posteriorly rotated ears Cerebellar hypoplasia Focal seizures with impairment of consciousness or awareness Congenital onset High palate Obtundation status Abnormal palmar dermatoglyphics Small earlobe Global brain atrophy Cutaneous syndactyly of toes Broad long bones Cerebellar vermis atrophy Dysmetria Flexion contracture Dysarthria Brachydactyly Skeletal muscle atrophy Dysphagia Babinski sign Hydronephrosis Clonus Camptodactyly Spastic paraplegia Genu valgum Lower limb muscle weakness Abnormality of the foot Distal amyotrophy Paraplegia Growth delay Hoarse voice Ankle clonus Spastic diplegia Impaired vibratory sensation Hammertoe Emotional lability Abnormality of the hand Childhood onset Gliosis Spastic paraparesis Hallucinations Lower limb spasticity Spastic gait Psychosis Prominent nose Muscle weakness Hypoinsulinemia Persistent pupillary membrane Advanced ossification of carpal bones Macrodontia of permanent maxillary central incisor Fifth finger distal phalanx clinodactyly 4-5 finger syndactyly 2-4 toe cutaneous syndactyly Hirsutism Febrile seizures Recurrent otitis media Pointed chin Polycystic ovaries Arnold-Chiari malformation Syringomyelia Arnold-Chiari type I malformation High anterior hairline Menstrual irregularities Progressive macrocephaly Recurrent aphthous stomatitis Hypertrichosis Raynaud phenomenon Keratoconjunctivitis sicca Keratitis Delayed cranial suture closure Conjunctivitis Syncope Wide nose Anteverted nares Thick eyebrow Apnea Hypoglycemia Osteopenia Pneumonia Gait disturbance Folate-dependent fragile site at Xq28



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