Delayed speech and language development, and High forehead

Diseases related with Delayed speech and language development and High forehead

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


Top matches:

High match EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 18; EIEE18

Early infantile epileptic encephalopathy-18 is a severe autosomal recessive neurologic disorder characterized by lack of psychomotor development apparent from birth, dysmorphic facial features, early onset of refractory seizures, and thick corpus callosum and persistent cavum septum pellucidum on brain imaging (summary by Basel-Vanagaite et al., 2013).For a general phenotypic description and a discussion of genetic heterogeneity of EIEE, see EIEE1 (OMIM ).

Related symptoms:

  • Autosomal recessive inheritance
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ptosis


SOURCES: OMIM ORPHANET UMLS MONDO

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 18; EIEE18

High match CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ip; CDG1P

(13q14.3).

CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ip; CDG1P Is also known as ;cdg syndrome type ip; cdg-ip; cdg1p; carbohydrate deficient glycoprotein syndrome type ip; congenital disorder of glycosylation type 1p; congenital disorder of glycosylation type ip

Related symptoms:

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


SOURCES: UMLS OMIM SCTID MONDO ORPHANET GARD

More info about CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ip; CDG1P

High match 5Q14.3 MICRODELETION SYNDROME

The newly described 5q14.3 microdeletion syndrome includes severe intellectual deficit with no speech, stereotypic movements and epilepsy.

5Q14.3 MICRODELETION SYNDROME Is also known as del(5)(q14.3); monosomy 5q14.3

Related symptoms:

  • Seizures
  • Strabismus
  • Muscular hypotonia
  • Feeding difficulties
  • Delayed speech and language development


SOURCES: ORPHANET

More info about 5Q14.3 MICRODELETION SYNDROME

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Other less relevant matches:

High match MENTAL RETARDATION, AUTOSOMAL DOMINANT 43; MRD43

Related symptoms:

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


SOURCES: UMLS DOID MONDO OMIM GARD

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 43; MRD43

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 MENTAL RETARDATION, AUTOSOMAL DOMINANT 31; MRD31

PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation is a rare, genetic neurological disease, with a highly variable phenotype, typically characterized by neonatal hypotonia, respiratory and feeding difficulties, global development delay (often with nonverbal and frequently non-ambulatory progression) and myopathic facies. Other frequently present features include seizures (or seizure-like episodes), visual impairment and encephalopathy.

MENTAL RETARDATION, AUTOSOMAL DOMINANT 31; MRD31 Is also known as ;

Related symptoms:

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


SOURCES: ORPHANET DOID OMIM MONDO UMLS

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 31; MRD31

High match SHORT STATURE, HEARING LOSS, RETINITIS PIGMENTOSA, AND DISTINCTIVE FACIES; SHRF

SHRF is an autosomal recessive disorder characterized by short stature, brachydactyly, dysmorphic facial features, hearing loss, and visual impairment. Onset of the hearing and visual abnormalities, including retinitis pigmentosa, varies from birth to the second decade. Patients have mild intellectual disability and mild cerebellar atrophy with myelination defects on brain imaging (summary by Di Donato et al., 2016).

SHORT STATURE, HEARING LOSS, RETINITIS PIGMENTOSA, AND DISTINCTIVE FACIES; SHRF Is also known as ;retinitis pigmentosa-deafness-premature aging-short stature-facial dysmorphism syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Nystagmus


SOURCES: OMIM ORPHANET

More info about SHORT STATURE, HEARING LOSS, RETINITIS PIGMENTOSA, AND DISTINCTIVE FACIES; SHRF

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

High match NOONAN SYNDROME 6; NS6

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Pica
  • Hearing impairment


SOURCES: MESH GARD MONDO DOID OMIM UMLS

More info about NOONAN SYNDROME 6; NS6

High match CHROMOSOME 15q14 DELETION SYNDROME

15q14 microdeletion syndrome is a recently described syndrome characterized by developmental delay, short stature and facial dysmorphism.

CHROMOSOME 15q14 DELETION SYNDROME Is also known as ;del(15)(q14); monosomy 15q14

Related symptoms:

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


SOURCES: UMLS OMIM SCTID MONDO ORPHANET

More info about CHROMOSOME 15q14 DELETION SYNDROME

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

Symptoms // Phenotype % cases
Generalized hypotonia Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Absent speech Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Microcephaly Feeding difficulties Hypertelorism Autosomal dominant inheritance Scoliosis Ventriculomegaly Strabismus Downslanted palpebral fissures Ptosis Upslanted palpebral fissure Long philtrum Anteverted nares Autosomal recessive inheritance Hypoplasia of the corpus callosum Short nose Broad forehead Abnormal facial shape Anxiety Prominent nasal bridge Nystagmus Macrocephaly Oxycephaly Short stature Long face Posteriorly rotated ears Sensorineural hearing impairment Myopia Low-set ears Hearing impairment

Rare Symptoms - Less than 30% cases


Infantile onset Autistic behavior Open mouth Delayed myelination Long fingers Epileptic encephalopathy Muscular hypotonia Narrow mouth Highly arched eyebrow Prominent forehead Thin upper lip vermilion Pica High palate Overgrowth Deeply set eye Short philtrum Cerebellar atrophy Congenital onset Mandibular prognathia Neonatal hypotonia Bilateral ptosis Encephalopathy Motor delay Thick corpus callosum Everted lower lip vermilion Kyphosis Epicanthus Broad distal phalanx of finger Broad columella Disproportionate tall stature Communicating hydrocephalus Wide nasal base Megalencephaly Sparse eyebrow Slender build Long foot Frontal bossing Large hands Hydrocephalus Cerebellar hypoplasia Cerebral cortical atrophy Gait ataxia Macrotia Proptosis Pes planus Malar flattening Joint laxity Tall stature Hyperlordosis Difficulty walking Arachnodactyly Triangular face Abnormal cerebellum morphology High myopia Lumbar hyperlordosis Kyphoscoliosis Hyperkeratosis Long neck Cleft lip Ventricular septal defect Atrial septal defect Abnormality of the dentition Inguinal hernia Immunodeficiency Autism Intellectual disability, moderate Abnormal cardiac septum morphology Smooth philtrum Cleft palate Bulbous nose Convex nasal ridge Narrow forehead Pointed chin Laryngomalacia Tented upper lip vermilion Acne Facial cleft Biparietal narrowing Tics Long eyebrows Expressive language delay Abnormal heart morphology Metopic synostosis Severe expressive language delay Growth delay Cryptorchidism Myopathy Depressed nasal bridge Cardiomyopathy Intellectual disability, mild Abnormality of cardiovascular system morphology Progressive hearing impairment Juvenile myelomonocytic leukemia Hypertrophic cardiomyopathy Pulmonic stenosis Leukemia Webbed neck Growth hormone deficiency Relative macrocephaly Curly hair Broad neck Asymmetry of the thorax Congenital hypothyroidism Apnea Corneal dystrophy Muscle weakness Toe syndactyly Thick eyebrow Stereotypy Optic nerve hypoplasia Agenesis of cerebellar vermis Abnormality of nervous system morphology Frontal cortical atrophy Spasticity Temperature instability Wide nasal bridge Dystonia Cerebral atrophy Hernia Constipation Hyperactivity Gastroesophageal reflux Intellectual disability, severe Type I transferrin isoform profile Tapered finger Drooling Hyporeflexia EEG abnormality Respiratory tract infection Focal seizures Generalized seizures Cyanosis Absence seizures Loss of consciousness Inverted nipples Cavum septum pellucidum Laterally extended eyebrow Hypertonia Vomiting Retrognathia Muscular hypotonia of the trunk Opisthotonus Scaling skin Umbilical hernia Poor speech Broad thumb Brachydactyly Deep philtrum Precocious puberty Broad-based gait Myopathic facies Overlapping toe Facial hypotonia Neurodevelopmental delay Hypertension Cortical visual impairment Coma Rod-cone dystrophy Glaucoma Diabetes mellitus Hypothyroidism Sparse hair Broad nasal tip CNS hypomyelination Esotropia Hip dysplasia Coxa valga Short chin Impulsivity Pectus excavatum Hypermetropia Astigmatism Narrow face Accelerated skeletal maturation Cutis marmorata Unsteady gait Advanced eruption of teeth Visual impairment Edema Respiratory insufficiency Myoclonus Telecanthus Dolichocephaly Facial asymmetry Everted upper lip vermilion



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