Delayed speech and language development, and Coloboma

Diseases related with Delayed speech and language development and Coloboma

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


Top matches:

Low match DEAFNESS, AUTOSOMAL RECESSIVE 108; DFNB108

Related symptoms:

  • Hearing impairment
  • Sensorineural hearing impairment
  • Peripheral neuropathy
  • Delayed speech and language development
  • Coloboma


SOURCES: DOID OMIM MONDO

More info about DEAFNESS, AUTOSOMAL RECESSIVE 108; DFNB108

Low match CATARACT 21, MULTIPLE TYPES; CTRCT21

Mutations in the MAF gene have been found to cause multiple types of cataract, which have been described as cortical pulverulent, lamellar, nuclear, nuclear pulverulent, nuclear stellate, anterior polar, anterior subcapsular, posterior subcapsular, and cerulean. In some cases, the cataracts are of juvenile onset.The preferred title of this entry was formerly 'Cataract, Pulverulent, Juvenile-Onset,' with an 'Included' title/symbol of 'Cataract, Congenital, Cerulean Type, 4; CCA4.'

CATARACT 21, MULTIPLE TYPES; CTRCT21 Is also known as cataract 21, multiple types, with or without microcornea, cataract, congenital, cerulean type, 4;cca4, cataract, pulverulent, juvenile-onset

Related symptoms:

  • Autosomal dominant inheritance
  • Cataract
  • Delayed speech and language development
  • Atrial septal defect
  • Microphthalmia


SOURCES: UMLS OMIM DOID MONDO MESH

More info about CATARACT 21, MULTIPLE TYPES; CTRCT21

Low match SWEENEY-COX SYNDROME; SWCOS

Sweeney-Cox syndrome is characterized by striking facial dysostosis, including hypertelorism, deficiencies of the eyelids and facial bones, cleft palate/velopharyngeal insufficiency, and low-set cupped ears (Kim et al., 2017).

Related symptoms:

  • Global developmental delay
  • Hearing impairment
  • Hypertelorism
  • Micrognathia
  • Ptosis


SOURCES: OMIM

More info about SWEENEY-COX SYNDROME; SWCOS

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Other less relevant matches:

Low match JOUBERT SYNDROME 14; JBTS14

Joubert syndrome-14 is an autosomal recessive developmental disorder characterized by severe mental retardation, hypoplasia of the cerebellar vermis and molar tooth sign (MTS) on brain imaging, hypotonia, abnormal breathing pattern in infancy, and dysmorphic facial features. Additional findings can include renal cysts, abnormal eye movements, and postaxial polydactyly (summary by Boycott et al., 2007 and Huang et al., 2011).For a phenotypic description and a discussion of genetic heterogeneity of Joubert syndrome, see {213300}.

Related symptoms:

  • Autosomal recessive inheritance
  • Global developmental delay
  • Generalized hypotonia
  • Pica
  • Hypertelorism


SOURCES: DOID UMLS OMIM MONDO

More info about JOUBERT SYNDROME 14; JBTS14

Low match DIHYDROPYRIMIDINE DEHYDROGENASE DEFICIENCY

Dihyropyrimidine dehydrogenase deficiency shows large phenotypic variability, ranging from no symptoms to a convulsive disorder with motor and mental retardation in homozygous patients. In addition, homozygous and heterozygous mutation carriers can develop severe toxicity after the administration of the antineoplastic drug 5-fluorouracil (5FU), which is also catabolized by the DPYD enzyme. This is an example of a pharmacogenetic disorder (Van Kuilenburg et al., 1999).Since there is no correlation between genotype and phenotype in DPD deficiency, it appears that the deficiency is a necessary, but not sufficient, prerequisite for the development of clinical abnormalities (Van Kuilenburg et al., 1999; Enns et al., 2004).

DIHYDROPYRIMIDINE DEHYDROGENASE DEFICIENCY Is also known as dpd deficiency, dpyd deficiency, thymine-uraciluria, hereditary, pyrimidinemia, familial;familial pyrimidinemia

Related symptoms:

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


SOURCES: NCIT ORPHANET MONDO MESH OMIM DOID GARD SCTID

More info about DIHYDROPYRIMIDINE DEHYDROGENASE DEFICIENCY

Low match MENTAL RETARDATION, AUTOSOMAL DOMINANT 20; MRD20

MENTAL RETARDATION, AUTOSOMAL DOMINANT 20; MRD20 Is also known as mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations

Related symptoms:

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


SOURCES: UMLS DOID OMIM MONDO

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 20; MRD20

Low match SCHUURS-HOEIJMAKERS SYNDROME; SHMS

Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome is a rare, genetic, syndromic intellectual disability syndrome characterized by mild to moderate intellectual disability, developmental delay (with speech and language development more severely affected) and facial dysmorphism which typically includes full, arched eyebrows, hypertelorism, down-slanting palpebral fissures, long eyelashes, ptosis, low-set, simple ears, bulbous nasal tip, flat philtrum, wide mouth with downturned corners and thin upper lip and diastema of the teeth. Association with infantile hypotonia, seizures, cryptorchidism in males and congenital abnormalities, including cardiac, cerebral or occular defects, may be observed.

SCHUURS-HOEIJMAKERS SYNDROME; SHMS Is also known as mental retardation, autosomal dominant 17;mrd17;

Related symptoms:

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


SOURCES: OMIM UMLS MONDO NCIT DOID ORPHANET GARD

More info about SCHUURS-HOEIJMAKERS SYNDROME; SHMS

Low match MENTAL RETARDATION AND DISTINCTIVE FACIAL FEATURES WITH OR WITHOUT CARDIAC DEFECTS; MRFACD

Mental retardation and distinctive facial features with or without cardiac defects (MRFACD) is an autosomal dominant, complex syndromic neurodevelopmental disorder characterized by delayed psychomotor development, poor speech acquisition, distinctive dysmorphic facial features, including frontal bossing, upslanting palpebral fissures, depressed nasal bridge with bulbous tip, and macrostomia. There is variable penetrance of cardiac malformations, ranging from no malformations to patent foramen ovale to septal defects and/or transposition of the great arteries (summary by Adegbola et al., 2015).

MENTAL RETARDATION AND DISTINCTIVE FACIAL FEATURES WITH OR WITHOUT CARDIAC DEFECTS; MRFACD Is also known as ;

Related symptoms:

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


SOURCES: ORPHANET MONDO UMLS OMIM GARD

More info about MENTAL RETARDATION AND DISTINCTIVE FACIAL FEATURES WITH OR WITHOUT CARDIAC DEFECTS; MRFACD

Low match GILLESPIE SYNDROME; GLSP

Gillespie syndrome is usually diagnosed in the first year of life by the presence of fixed dilated pupils in a hypotonic infant. Affected individuals have a characteristic form of iris hypoplasia in which the pupillary border of the iris exhibits a scalloped or 'festooned' edge, with iris strands extending onto the anterior lens surface at regular intervals. The key extraocular features of Gillespie syndrome are congenital hypotonia, progressive cerebellar hypoplasia, and ataxia, as well as variable cognitive impairment that is usually mild (summary by Gerber et al., 2016 and McEntagart et al., 2016).

GILLESPIE SYNDROME; GLSP Is also known as aniridia, cerebellar ataxia, and mental retardation;gillespie syndrome

Related symptoms:

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


SOURCES: OMIM MONDO ORPHANET UMLS MESH GARD SCTID

More info about GILLESPIE SYNDROME; GLSP

Low match CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id; CDG1D

Congenital disorders of glycosylation (CDGs) are a genetically heterogeneous group of autosomal recessive disorders caused by enzymatic defects in the synthesis and processing of asparagine (N)-linked glycans or oligosaccharides on glycoproteins. Type I CDGs comprise defects in the assembly of the dolichol lipid-linked oligosaccharide (LLO) chain and its transfer to the nascent protein. These disorders can be identified by a characteristic abnormal isoelectric focusing profile of plasma transferrin (Leroy, 2006).CDG1D is a type I CDG that generally presents with severe neurologic involvement associated with dysmorphism and visual impairment. Liver involvement is sometimes present (summary by Marques-da-Silva et al., 2017).For a discussion of the classification of CDGs, see CDG1A (OMIM ).

CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id; CDG1D Is also known as cdg id;cdgid, carbohydrate-deficient glycoprotein syndrome, type iv, formerly;cdgs4, formerly, cdgs, type iv, formerly;cdg syndrome type id; cdg-id; cdg1d; carbohydrate deficient glycoprotein syndrome type id; congenital disorder of glycosylation type 1d; congenital disorder of glycosylation type id; mannosyltransferase 6 deficiency

Related symptoms:

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


SOURCES: UMLS MESH NCIT GARD SCTID ORPHANET OMIM MONDO

More info about CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id; CDG1D

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

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

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

Uncommon Symptoms - Between 30% and 50% cases


Intellectual disability Seizures Abnormal facial shape Iris coloboma Ptosis Growth delay Low-set ears Downslanted palpebral fissures Ataxia Nystagmus Macrotia Autosomal dominant inheritance Motor delay Autism Autosomal recessive inheritance Dysarthria Pica Muscular hypotonia of the trunk Bulbous nose Synophrys Microcephaly Hypoplasia of the corpus callosum Cerebral atrophy Ventriculomegaly Optic atrophy Open mouth Muscular hypotonia Depressed nasal bridge Hearing impairment Microphthalmia Cryptorchidism Talipes equinovarus Cerebellar hypoplasia

Rare Symptoms - Less than 30% cases


Highly arched eyebrow Anteverted nares Clinodactyly Short philtrum Upslanted palpebral fissure Failure to thrive Pneumonia Intellectual disability, severe Epicanthus Wide nasal bridge Downturned corners of mouth Mandibular prognathia Feeding difficulties Tented upper lip vermilion High forehead Encephalopathy Bifid uvula Autistic behavior Abnormality of the pinna Wide mouth Cataract Visual impairment Congenital cataract Diarrhea Hyperactivity Hypertonia Speech apraxia Everted lower lip vermilion Long fingers Cerebellar atrophy Febrile seizures Low anterior hairline Plagiocephaly Intellectual disability, moderate Supernumerary nipple Patent foramen ovale Transposition of the great arteries Peripheral neuropathy Broad nasal tip Thickened helices Macroglossia Hypermetropia Triangular face Total anomalous pulmonary venous return Round face Narrow forehead Poor speech Gastroesophageal reflux Abnormal heart morphology Single umbilical artery Abnormality of the ear Abnormal cardiac septum morphology Smooth philtrum Cleft lip Wide intermamillary distance High myopia Intestinal malrotation Broad thumb Long eyelashes Slender finger Volvulus Prominent forehead Unilateral cryptorchidism Diastema Cavum septum pellucidum Short neck Frontal bossing Infantile onset Ventricular septal defect Abnormality of cardiovascular system morphology Recurrent infections Horizontal eyebrow Retrognathia Brachycephaly Intellectual disability, mild Hypoplasia of eyelid Nail dysplasia Frontal cortical atrophy Flexion contracture High palate Hyperreflexia Blindness Arrhythmia Pectus excavatum Vomiting Abnormality of the eye Arthrogryposis multiplex congenita Severe global developmental delay Hypsarrhythmia Mydriasis Cortical visual impairment Small nail Joint contracture of the hand Abnormality of vision Adducted thumb Hypoplastic nipples Severe visual impairment Villous atrophy Decreased light- and dark-adapted electroretinogram amplitude Portal fibrosis Type I transferrin isoform profile Clinodactyly of the 5th toe Craniofacial asymmetry Abnormality of the pulmonary artery Nevus Abnormal cerebellum morphology Tremor Thin upper lip vermilion Cerebral cortical atrophy Gait ataxia Reduced visual acuity Neurological speech impairment Corneal opacity Abnormality of movement Facial asymmetry Pulmonic stenosis Unsteady gait High, narrow palate Hypopigmentation of the skin Scanning speech Apraxia Involuntary movements Postural tremor Mask-like facies Bilateral ptosis Slurred speech Hearing abnormality Aniridia Hypoplasia of the fovea Hypoplasia of the iris Broad distal phalanx of finger Hyperconvex nail Aggressive behavior Infantile spasms Pes planus Encephalocele Malar flattening Posteriorly rotated ears Macular hypoplasia Polydactyly Prominent nasal bridge Deeply set eye Irritability Renal cyst Postaxial polydactyly Lamellar cataract Dandy-Walker malformation Cerulean cataract Cephalocele Molar tooth sign on MRI Retinal coloboma Occipital encephalocele Meningocele Multiple renal cysts Breathing dysregulation Morning glory anomaly Posterior polar cataract Polar cataract Nuclear cataract Hydrocephalus Hypertension Neoplasm Bilateral talipes equinovarus Anal atresia Narrow chest Talipes Hirsutism Underdeveloped nasal alae Choanal atresia Wide anterior fontanel Generalized hirsutism Overfolded helix Cutaneous syndactyly Cupped ear Prominent metopic ridge Cortical pulverulent cataract Eyelid coloboma Broad neck Asplenia Short columella Velopharyngeal insufficiency Median cleft palate Upper eyelid coloboma Proptosis Syndactyly Cleft palate Micrognathia Microcornea Hepatomegaly Abnormality of the genital system Short chin Protruding ear Attention deficit hyperactivity disorder Broad forehead Thick eyebrow Short foot Convex nasal ridge Generalized myoclonic seizures Epileptic encephalopathy Inability to walk Heterotopia Absence seizures Craniosynostosis EEG abnormality Poor eye contact Abnormality of the periventricular white matter Large earlobe Periventricular leukomalacia Abnormal corpus callosum morphology Happy demeanor Hemiclonic seizures Periventricular white matter hyperdensities Myopia Gait disturbance Constipation Sporadic Sensorineural hearing impairment Retinal detachment Breast carcinoma Fever Coma Thrombocytopenia Agenesis of corpus callosum Alopecia Weight loss Lethargy Tetraplegia Spastic tetraplegia Leukopenia Aspiration Hypoventilation Myoclonus Diffuse cerebral atrophy Aspiration pneumonia Stomatitis Recurrent aspiration pneumonia Reduced dihydropyrimidine dehydrogenase activity Uraciluria Short stature Brachydactyly Atrial septal defect Short nose Dilatation Food intolerance



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