Global developmental delay, and Overgrowth

Diseases related with Global developmental delay and Overgrowth

In the following list you will find some of the most common rare diseases related to Global developmental delay and Overgrowth that can help you solving undiagnosed cases.

Top matches:

Rahman syndrome is characterized by mild to severe intellectual disability associated with variable somatic overgrowth manifest as increased birth length, height, weight, and/or head circumference. The overgrowth is apparent in infancy and may lessen with time or persist. The phenotype is highly variable; some individuals may have other minor anomalies, including dysmorphic facial features, strabismus, or camptodactyly. The disorder is thought to result from a defect in epigenetic regulation (summary by Tatton-Brown et al., 2017).

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Strabismus
  • Abnormal facial shape
  • Macrocephaly


SOURCES: OMIM MENDELIAN

More info about RAHMAN SYNDROME; RMNS

Related symptoms:

  • Scoliosis
  • Ptosis
  • Epicanthus
  • Macrotia
  • Umbilical hernia


SOURCES: ORPHANET MENDELIAN

More info about BECKWITH-WIEDEMANN SYNDROME DUE TO NSD1 MUTATION

Related symptoms:

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


SOURCES: OMIM MENDELIAN

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

Other less relevant matches:

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about INTELLECTUAL DISABILITY-MACROCEPHALY-HYPOTONIA-BEHAVIORAL ABNORMALITIES SYNDROME

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:

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


SOURCES: OMIM MENDELIAN

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

17p13.3 microduplication syndrome is characterized by variable psychomotor delay and dysmorphic features.

17P13.3 MICRODUPLICATION SYNDROME Is also known as 17p13.3 duplication syndrome|dup(17)(p13.3)|trisomy 17p13.3

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about 17P13.3 MICRODUPLICATION SYNDROME

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

Related symptoms:

  • Global developmental delay
  • Short stature
  • Failure to thrive
  • Micrognathia
  • Cataract


SOURCES: OMIM MESH MENDELIAN

More info about OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE

Thauvin-Robinet-Faivre syndrome is an autosomal recessive disorder characterized by generalized overgrowth, mainly of height, and mildly delayed psychomotor development with mild or severe learning difficulties. More variable features may include congenital heart defects, kidney abnormalities, and skeletal defects. Patients may have an increased risk for Wilms tumor (summary by Akawi et al., 2016).

TALL STATURE-INTELLECTUAL DISABILITY-RENAL ANOMALIES SYNDROME Is also known as thauvin-robinet-faivre syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Hypertelorism
  • Neoplasm


SOURCES: ORPHANET OMIM MENDELIAN

More info about TALL STATURE-INTELLECTUAL DISABILITY-RENAL ANOMALIES SYNDROME

High match CINCA SYNDROME

Chronic Infantile Neurological, Cutaneous, and Articular (CINCA) syndrome is characterised by skin rash, joint involvement, chronic meningitis with granulocytes and, in some cases, sensorineural hearing loss and ocular signs.

CINCA SYNDROME Is also known as multisystem inflammatory disease, neonatal-onset|nomid syndrome|iomid syndrome|infantile-onset multisystem inflammatory disease|prieur-griscelli syndrome|neonatal-onset multisystem inflammatory disease|chronic neurologic cutaneous and articular syndrome|c

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Growth delay
  • Sensorineural hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about CINCA SYNDROME

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:

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


SOURCES: OMIM MENDELIAN

More info about LUSCAN-LUMISH SYNDROME; LLS

Top 5 symptoms//phenotypes associated to Global developmental delay and Overgrowth

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Macrocephaly Common - Between 50% and 80% cases
Abnormal facial shape Common - Between 50% and 80% cases
Downslanted palpebral fissures Common - Between 50% and 80% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Global developmental delay and Overgrowth. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Frontal bossing Ventriculomegaly Absent speech Hypertelorism Seizures Strabismus Large for gestational age Deeply set eye Long foot Large hands Tall stature Myopia Low-set ears Failure to thrive Delayed speech and language development Prominent forehead Behavioral abnormality Hydrocephalus High forehead Epicanthus Macrotia

Rare Symptoms - Less than 30% cases

Inguinal hernia Triangular face Pes planus Hernia Midface retrusion Dental crowding Cerebellar atrophy High palate Abnormality of the dentition Gait ataxia Growth delay Kyphoscoliosis Disproportionate tall stature Congenital hip dislocation Long nose Astigmatism Talipes Telecanthus Difficulty walking Scoliosis Clinodactyly Short stature Talipes equinovarus Pointed chin Hyperactivity Hearing impairment Long face Attention deficit hyperactivity disorder Proptosis Narrow mouth Autism Malar flattening Visual impairment Sensorineural hearing impairment Mandibular prognathia Renal malrotation Spina bifida Long hallux Spina bifida occulta Bowing of the legs Abnormality of dental morphology Nephroblastoma Retinal coloboma Enlarged kidney Sparse eyelashes Mitral valve prolapse Varicose veins Renal dysplasia Cranial hyperostosis Intestinal malrotation Intellectual disability, mild Persistent pupillary membrane Cutaneous syndactyly of toes Macrodontia of permanent maxillary central incisor Fifth finger distal phalanx clinodactyly 4-5 finger syndactyly 2-4 toe cutaneous syndactyly Neoplasm Hypoplasia of teeth Large earlobe Abnormality of the skeletal system Ventricular septal defect Abnormal heart morphology Hyperostosis Protruding ear Coloboma Mild global developmental delay Thick vermilion border Broad long bones Renal cyst Spinal cord compression Narrow nose Basal ganglia calcification Macroglossia Round face Neutropenia Hepatosplenomegaly Bifid ureter Aggressive behavior Juvenile rheumatoid arthritis Abnormal thrombocyte morphology Delayed closure of the anterior fontanelle Elevated C-reactive protein level Inflammatory abnormality of the eye Abnormality of neutrophils Pseudopapilledema Retrobulbar optic neuritis Abnormal granulocyte morphology Atrial septal defect Dilatation Obesity Anxiety Autistic behavior Amyloidosis Generalized tonic-clonic seizures Hirsutism Recurrent otitis media Arnold-Chiari malformation Polycystic ovaries Slurred speech Polyphagia Syringomyelia Arnold-Chiari type I malformation High anterior hairline Menstrual irregularities Shyness Advanced ossification of carpal bones Uveitis Arthropathy Anemia Skin rash Hepatomegaly Brachydactyly Fever Fatigue Edema Blindness Splenomegaly Skeletal dysplasia Arthralgia Large fontanelles EEG abnormality Myalgia Arthritis Papule Abnormal joint morphology Nausea and vomiting Lymphadenopathy Migraine Premature birth Meningitis Vasculitis Joint dislocation Purpura Increased intracranial pressure Reduced bone mineral density Urticaria Leukocytosis Elevated erythrocyte sedimentation rate Progressive sensorineural hearing impairment Abnormality of dental enamel Clinodactyly of the 5th finger Sparse scalp hair Epileptic spasms Inability to walk Epileptic encephalopathy Hypsarrhythmia Gingival overgrowth Cerebral visual impairment Sandal gap Focal impaired awareness seizure Self-injurious behavior Flat occiput Global brain atrophy Small earlobe Encephalopathy Abnormal palmar dermatoglyphics Obtundation status Diarrhea Hypoglycemia Hip dislocation Poor speech Narrow forehead Open mouth Chronic diarrhea Torticollis Tented upper lip vermilion Developmental regression Cerebral atrophy Facial hypotonia Dolichocephaly Hypertonia Neonatal hypotonia Camptodactyly Full cheeks Nevus Amblyopia Accelerated skeletal maturation Curved fingers Ptosis Umbilical hernia Craniosynostosis Vesicoureteral reflux Abnormality of the palpebral fissures Plagiocephaly Neonatal hypoglycemia Multiple renal cysts Fragile nails Hyperinsulinemic hypoglycemia Hemihypertrophy Deep palmar crease Moderate global developmental delay Abdominal wall muscle weakness Deep-set nails Abnormality of the hairline Pyloric stenosis Congenital muscular torticollis Fine hair Microphthalmia Short neck Hypoplasia of the corpus callosum Short nose Micropenis Wide nose Hypoplasia of penis Lissencephaly Micrognathia Cataract Long philtrum Syndactyly Delayed skeletal maturation Motor delay Brachycephaly Toe syndactyly Thin vermilion border Small hand Short foot Delayed eruption of teeth Microcornea Hypoplasia of the maxilla Dental malocclusion Underdeveloped nasal alae Short palpebral fissure Wide nasal bridge Muscular hypotonia Increased head circumference Abnormal cerebellum morphology Ataxia Cognitive impairment Kyphosis Cerebellar hypoplasia Posteriorly rotated ears Upslanted palpebral fissure Cerebral cortical atrophy Joint laxity Hyperlordosis Prominent nasal bridge Arachnodactyly High myopia Microcephaly Lumbar hyperlordosis Sparse eyebrow Long fingers Megalencephaly Communicating hydrocephalus Slender build Metopic synostosis Expressive language delay Long neck Thick corpus callosum Severe expressive language delay Progressive macrocephaly


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