Delayed speech and language development, and Retrognathia

Diseases related with Delayed speech and language development and Retrognathia

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


Top matches:

Medium 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

Medium match MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND WITH OR WITHOUT AUTISTIC FEATURES

Mental retardation with language impairment and with or without autistic features is a neurodevelopmental disorder characterized by global developmental delay with moderate to severe speech delay that particularly affects expressive speech. Most patients have articulation defects, but frank verbal dyspraxia is not observed. Common dysmorphic features include broad forehead, downslanting palpebral fissures, short nose with broad tip, relative macrocephaly, frontal hair upsweep, and prominent digit pads. Gross motor skills are also delayed. Some patients have autistic features and/or behavioral problems. All reported cases have occurred de novo (review by Le Fevre et al., 2013).

MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND WITH OR WITHOUT AUTISTIC FEATURES Is also known as ;

Related symptoms:

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


SOURCES: GARD MONDO UMLS ORPHANET OMIM

More info about MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND WITH OR WITHOUT AUTISTIC FEATURES

Medium match CRANIOSYNOSTOSIS 4; CRS4

Craniosynostosis is a primary abnormality of skull growth involving premature fusion of the cranial sutures such that the growth velocity of the skull often cannot match that of the developing brain. This produces skull deformity and, in some cases, raises intracranial pressure, which must be treated promptly to avoid permanent neurodevelopmental disability (summary by Fitzpatrick, 2013). Craniosynostosis-4 includes lambdoid, sagittal, metopic, coronal, and multisuture forms.For a discussion of genetic heterogeneity of craniosynostosis, see CRS1 (OMIM ).

Related symptoms:

  • Autosomal dominant inheritance
  • Hypertelorism
  • Ptosis
  • Depressed nasal bridge
  • Delayed speech and language development


SOURCES: MONDO UMLS OMIM

More info about CRANIOSYNOSTOSIS 4; CRS4

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Other less relevant matches:

Medium 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

Medium match OROFACIODIGITAL SYNDROME XIV; OFD14

mutations, characterized by severe microcephaly, trigonocephaly, severe intellectual disability and micropenis, in addition to oral, facial and digital malformations (gingival frenulae, lingual hamartomas, cleft/lobulated tongue, cleft palate, telecanthus, up-slanting palpebral fissures, microretrognathia, postaxial polydactyly of hands and duplication of hallux). Corpus callosum agenesis and vermis hypoplasia with molar tooth sign, on brain imaging, are also associated.

OROFACIODIGITAL SYNDROME XIV; OFD14 Is also known as ;microcephaly-cerebral malformation-orofaciodigital syndrome; ofd14; oral-facial-digital syndrome type 14

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Microcephaly
  • Cleft palate
  • Abnormal facial shape


SOURCES: ORPHANET MONDO UMLS OMIM

More info about OROFACIODIGITAL SYNDROME XIV; OFD14

Medium match MICROPHTHALMIA, SYNDROMIC 12; MCOPS12

MICROPHTHALMIA, SYNDROMIC 12; MCOPS12 Is also known as microphthalmia with or without pulmonary hypoplasia, diaphragmatic hernia, and/or cardiac defects

Related symptoms:

  • Autosomal recessive inheritance
  • Autosomal dominant inheritance
  • Intellectual disability
  • Generalized hypotonia
  • Micrognathia


SOURCES: MONDO GARD OMIM UMLS

More info about MICROPHTHALMIA, SYNDROMIC 12; MCOPS12

Medium match STANKIEWICZ-ISIDOR SYNDROME; STISS

Stankiewicz-Isidor syndrome (STISS) is a neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability, behavioral disorders, mild craniofacial anomalies, and variable congenital defects of the cardiac and/or urogenital systems (summary by Kury et al., 2017).

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Hypertelorism


SOURCES: UMLS OMIM

More info about STANKIEWICZ-ISIDOR SYNDROME; STISS

Medium match GABA-TRANSAMINASE DEFICIENCY

GABA-transaminase deficiency is characterized by neonatal or early infantile-onset encephalopathy, hypotonia, hypersomnolence, epilepsy, choreoathetosis, and accelerated linear growth. Electroencephalograms show burst-suppression, modified hypsarrhythmia, multifocal spikes, and generalized spike-wave. Severity varies, but most patients have profound developmental impairment and some patients die in infancy (summary by Koenig et al., 2017).

GABA-TRANSAMINASE DEFICIENCY Is also known as ;gaba transaminase deficiency

Related symptoms:

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


SOURCES: DOID SCTID OMIM GARD ORPHANET MONDO MESH UMLS

More info about GABA-TRANSAMINASE DEFICIENCY

Medium 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

Medium match 6Q16 DELETION SYNDROME

Deletion 6q16 syndrome is a Prader-Willi like syndrome characterized by obesity, hyperphagia, hypotonia, small hands and feet, eye/vision anomalies, and global developmental delay.

6Q16 DELETION SYNDROME Is also known as del(6)(q16); monosomy 6q16; prader-willi-like syndrome due to deletion 6q16

Related symptoms:

  • Global developmental delay
  • Short stature
  • Microcephaly
  • Hypertelorism
  • Nystagmus


SOURCES: ORPHANET

More info about 6Q16 DELETION SYNDROME

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

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
Strabismus Common - Between 50% and 80% cases
Microcephaly Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Autosomal recessive inheritance Autism Hypertelorism Autosomal dominant inheritance Microretrognathia Downslanted palpebral fissures Epicanthus Macrocephaly Absent speech Nystagmus Seizures

Rare Symptoms - Less than 30% cases


Telecanthus Hearing impairment Scoliosis Muscular hypotonia Feeding difficulties Malar flattening Micropenis Muscular hypotonia of the trunk Cleft palate Upslanted palpebral fissure Broad nasal tip Micrognathia Cryptorchidism Brachycephaly Tetraparesis Spastic tetraparesis Motor delay EEG abnormality High palate Prominent nasal bridge Depressed nasal bridge Abnormal facial shape Low-set ears Midface retrusion Joint hypermobility Hypoplasia of the corpus callosum Aggressive behavior Prominent forehead Oxycephaly Hyperactivity Obesity Pica Autistic behavior Irritability Congenital onset Short nose Esotropia Encephalopathy Lethargy Abnormality of movement Severe global developmental delay Cerebellar atrophy Myoclonus Agenesis of corpus callosum Cerebellar hypoplasia Poor speech Hyperreflexia Respiratory distress Patent ductus arteriosus Thin upper lip vermilion Anophthalmia Bicornuate uterus Hypoplastic left atrium Visual impairment Hypospadias Abnormal cardiac septum morphology Dystonia Facial asymmetry Abnormality of the kidney Prominent nose Cortical visual impairment Horizontal nystagmus Pineal cyst Leukodystrophy Tall stature Death in childhood Severe muscular hypotonia Short palm Almond-shaped palpebral fissure Short stature Myopia Abnormality of cardiovascular system morphology Clinodactyly of the 5th finger Macrotia Bulbous nose Abnormal cortical bone morphology Tapered finger Short foot Round face Full cheeks Polyphagia Narrow nose Slender build Abnormality of digit Ketonuria Kyphosis Protruding tongue Congenital diaphragmatic hernia Abnormal cortical gyration Posterior fossa cyst Multifocal epileptiform discharges High-pitched cry X-linked recessive inheritance Narrow face Posteriorly rotated ears Hyperlordosis Polymicrogyria Long face Sleep disturbance Pachygyria Dental crowding Short palpebral fissure Ventricular septal defect Pulmonary hypoplasia Arnold-Chiari type I malformation Intellectual disability, moderate Plagiocephaly Optic nerve hypoplasia Increased intracranial pressure Flat occiput Cephalocele Anterior plagiocephaly Small hand Lambdoidal craniosynostosis Craniofacial dysostosis Ectopic posterior pituitary Prominent scalp veins Pansynostosis Posterior plagiocephaly Encephalocele Acrania Behavioral abnormality Language impairment Delayed myelination Apraxia Open mouth Stereotypy Drooling Delayed gross motor development Large forehead Craniosynostosis Ptosis Attention deficit hyperactivity disorder Frontal bossing Anteverted nares Anxiety Proptosis Sensorineural hearing impairment Infantile onset Sparse hair Lobulated tongue Trigonocephaly Hamartoma Molar tooth sign on MRI Increased number of teeth Arachnoid cyst Bifid tongue Hamartoma of tongue Postaxial polydactyly Aplasia of the epiglottis Everted lower lip vermilion Wide nasal bridge Microphthalmia Hernia Joint laxity Hand polydactyly Retinopathy Hypertonia Scaling skin Long philtrum Vomiting Failure to thrive High forehead Neonatal hypotonia Opisthotonus Inverted nipples Polydactyly Type I transferrin isoform profile Temperature instability Cupped ear Overfolded helix Intellectual disability, severe Blue sclerae Misalignment of teeth



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