Delayed speech and language development, and Microdontia

Diseases related with Delayed speech and language development and Microdontia

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


Top matches:

Medium match MENTAL RETARDATION, X-LINKED 1; MRX1

Impaired mental functioning occurs as an isolated feature or as part of many syndromes listed in the X-linked catalog. Mental retardation that is not associated with other distinguishing features is referred to as 'nonspecific.' ClassificationOpitz and Sutherland (1984) reported on a conference in which fragile X mental retardation and X-linked mental retardation of numerous other types were discussed. The report contains a rather comprehensive discussion by Opitz of the nosology of X-linked mental retardation. Mulley et al. (1992) reviewed nomenclature guidelines for X-linked mental retardation.Raymond (2006) reviewed the diagnosis and classification of X-linked mental retardation and discussed the phenotypes associated with genes causing syndromic and nonsyndromic mental retardation.

MENTAL RETARDATION, X-LINKED 1; MRX1 Is also known as mrx, mental retardation, x-linked 18;mrx18, mental retardation, x-linked 78;mrx78;x-linked intellectual disability, atkin type

Related symptoms:

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


SOURCES: OMIM ORPHANET

More info about MENTAL RETARDATION, X-LINKED 1; MRX1

Medium match CONGENITAL HEART DEFECTS AND ECTODERMAL DYSPLASIA; CHDED

Related symptoms:

  • Autosomal dominant inheritance
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Scoliosis


SOURCES: OMIM MONDO UMLS

More info about CONGENITAL HEART DEFECTS AND ECTODERMAL DYSPLASIA; CHDED

Medium match SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL, 2; CSCSC2

Congenital symmetric circumferential skin creases is characterized by the folding of excess skin, which leads to ringed creases, primarily of the limbs. Affected individuals also exhibit intellectual disability, cleft palate, and dysmorphic features (summary by Isrie et al., 2015).For a discussion of genetic heterogeneity of congenital symmetric circumferential skin creases, see CSCSC1 (OMIM ).

Related symptoms:

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


SOURCES: UMLS MONDO OMIM

More info about SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL, 2; CSCSC2

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Other less relevant matches:

Medium match CRANIOLENTICULOSUTURAL DYSPLASIA; CLSD

Craniolenticulosutural dysplasia (CLSD), also known as Boyadjiev-Jabs syndrome, is characterized by the specific association of large and late-closing fontanels, hypertelorism, early-onset cataract and mild generalized skeletal dysplasia.

CRANIOLENTICULOSUTURAL DYSPLASIA; CLSD Is also known as boyadjiev-jabs syndrome;boyadjiev-jabs syndrome

Related symptoms:

  • Autosomal recessive inheritance
  • Short stature
  • Scoliosis
  • Hypertelorism
  • Failure to thrive


SOURCES: OMIM SCTID UMLS MESH MONDO ORPHANET

More info about CRANIOLENTICULOSUTURAL DYSPLASIA; CLSD

Medium match ABLEPHARON-MACROSTOMIA SYNDROME; AMS

Ablepharon macrostomia syndrome is an extremely rare multiple congenital malformation syndrome characterized by the association of ablepharon, macrostomia, abnormal external ears, syndactyly of the hands and feet, skin findings (such as dry and coarse skin or redundant folds of skin), absent or sparse hair, genital malformations and developmental delay (in 2/3 of cases). Other reported manifestations include malar hypoplasia, absent or hypoplastic nipples, umbilical abnormalities and growth retardation. It is a mainly sporadic disorder, although a few familial cases having been reported, and it displays significant clinical overlap with Fraser syndrome (see this term).

ABLEPHARON-MACROSTOMIA SYNDROME; AMS Is also known as ;

Related symptoms:

  • Autosomal recessive inheritance
  • Autosomal dominant inheritance
  • Global developmental delay
  • Hearing impairment
  • Microcephaly


SOURCES: SCTID MONDO GARD MESH OMIM UMLS ORPHANET DOID

More info about ABLEPHARON-MACROSTOMIA SYNDROME; AMS

Medium match MUCOLIPIDOSIS IV; ML4

Mucolipidosis IV is an autosomal recessive neurodegenerative lysosomal storage disorder characterized by psychomotor retardation and ophthalmologic abnormalities. The lysosomal hydrolases in ML IV are normal, in contrast to most other storage diseases. The disorder results from a defect in transport along the lysosomal pathway, affecting membrane sorting and/or late steps of endocytosis, which causes intracellular accumulation of lysosomal substrates. Over 80% of the patients in whom the diagnosis of ML IV has been made are Ashkenazi Jews, including severely affected and mildly affected patients (Chen et al., 1998).

MUCOLIPIDOSIS IV; ML4 Is also known as ml iv, sialolipidosis;

Related symptoms:

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


SOURCES: OMIM ORPHANET NCIT SCTID GARD ICD10 MONDO

More info about MUCOLIPIDOSIS IV; ML4

Medium match SHORT SYNDROME

'Short,' the mnemonic designation for this syndrome, is an acronym: S = stature; H = hyperextensibility of joints or hernia (inguinal) or both; O = ocular depression; R = Rieger anomaly; T = teething delay. The name was given by Gorlin (1975), who described the syndrome in 2 brothers.Dyment et al. (2013) noted that the features listed in the acronym for SHORT syndrome do not capture the full range of the clinical phenotype, which can include a recognizable facial gestalt consisting of triangular facies, lack of facial fat, and hypoplastic nasal alae with overhanging columella, as well as near-universal partial lipodystrophy, insulin resistance, nephrocalcinosis, and hearing deficits. Notably, both developmental milestones and cognition are normal for individuals with SHORT syndrome.

SHORT SYNDROME Is also known as short stature, hyperextensibility, hernia, ocular depression, rieger anomaly, and teething delay, lipodystrophy, partial, with rieger anomaly and short stature;aarskog-ose-pande syndrome; lipodystrophy-rieger anomaly-diabetes syndrome; rieger anomaly-partial lipodystrophy syndrome

Related symptoms:

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


SOURCES: OMIM GARD ORPHANET UMLS MESH MONDO

More info about SHORT SYNDROME

Low match WRINKLY SKIN SYNDROME; WSS

Wrinkly skin syndrome (WSS) is characterized by wrinkling of the skin of the dorsum of the hands and feet, an increased number of palmar and plantar creases, wrinkled abdominal skin, multiple skeletal abnormalities (joint laxity and congenital hip dislocation), late closing of the anterior fontanel, microcephaly, pre- and postnatal growth retardation, developmental delay and facial dysmorphism (a broad nasal bridge, downslanting palpebral fissures and hypertelorism).

WRINKLY SKIN SYNDROME; WSS Is also known as ;wss; wrinkled skin syndrome

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Microcephaly


SOURCES: MESH SCTID MONDO OMIM GARD UMLS ORPHANET

More info about WRINKLY SKIN SYNDROME; WSS

Low match KAUFMAN OCULOCEREBROFACIAL SYNDROME; KOS

. An autosomal recessive mode of inheritance seems most likely.

KAUFMAN OCULOCEREBROFACIAL SYNDROME; KOS Is also known as blepharophimosis-ptosis-intellectual disability syndrome;bpids;

Related symptoms:

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


SOURCES: UMLS ORPHANET SCTID MESH MONDO GARD OMIM

More info about KAUFMAN OCULOCEREBROFACIAL SYNDROME; KOS

Low match CRANIOFACIAL DYSMORPHISM, SKELETAL ANOMALIES, AND MENTAL RETARDATION SYNDROME; CFSMR

Cerebro-facio-thoracic dysplasia or Pascual-Castroviejo syndrome type 1 is a rare syndrome characterized by facial dysmorphism, intellectual deficit and costovertebral abnormalities.

CRANIOFACIAL DYSMORPHISM, SKELETAL ANOMALIES, AND MENTAL RETARDATION SYNDROME; CFSMR Is also known as cerebrofaciothoracic dysplasia;pascual-castroviejo syndrome type 1

Related symptoms:

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


SOURCES: MONDO SCTID OMIM MESH GARD UMLS ORPHANET

More info about CRANIOFACIAL DYSMORPHISM, SKELETAL ANOMALIES, AND MENTAL RETARDATION SYNDROME; CFSMR

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

Symptoms // Phenotype % cases
Global developmental delay Very Common - Between 80% and 100% cases
Microcephaly Common - Between 50% and 80% cases
Hypertelorism Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Autosomal recessive inheritance Common - Between 50% and 80% cases
Mendelian

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Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Short stature

Uncommon Symptoms - Between 30% and 50% cases


Generalized hypotonia

Common Symptoms - More than 50% cases


Abnormal facial shape

Uncommon Symptoms - Between 30% and 50% cases


Motor delay Sparse hair Micrognathia Wide nasal bridge Pes planus Anteverted nares Failure to thrive Hearing impairment Muscular hypotonia Myopia Prominent forehead Growth delay Thin skin Pica Wide mouth Carious teeth Cryptorchidism Low-set ears Epicanthus High palate Hypoplasia of the corpus callosum Midface retrusion Scoliosis Nystagmus Hernia Autosomal dominant inheritance Strabismus Absent speech Macrocephaly Cleft palate Downslanted palpebral fissures Pectus excavatum Upslanted palpebral fissure Posteriorly rotated ears Corneal opacity Osteopenia Short nose Brachycephaly Talipes equinovarus Microcornea Wide anterior fontanel Hypoplasia of the maxilla Delayed eruption of teeth Cataract Thin vermilion border Optic atrophy Smooth philtrum Malar flattening Excessive wrinkled skin Abnormality of the dentition Inguinal hernia Seizures Depressed nasal bridge Feeding difficulties Prominent supraorbital ridges Joint hypermobility Postnatal growth retardation Syndactyly

Rare Symptoms - Less than 30% cases


Cerebellar vermis hypoplasia Visual impairment Intellectual disability, severe Delayed closure of the anterior fontanelle Coarse hair Wide nose Esotropia Telecanthus Abnormality of skin pigmentation Congenital hip dislocation Narrow chest Lipodystrophy Joint hyperflexibility Hip dislocation Abnormal nasal morphology Sparse and thin eyebrow Cutis laxa Conical tooth Abnormality of the kidney Abnormal hair pattern Absent eyebrow Sparse eyebrow Coloboma Short chin Skeletal dysplasia Fine hair Intrauterine growth retardation Abnormality of the nervous system Dental malocclusion Underdeveloped nasal alae High myopia Opacification of the corneal stroma Atrial septal defect Ptosis Umbilical hernia Sacral dimple Premature skin wrinkling Joint laxity Narrow mouth Flat face Short palm Microtia Blepharophimosis Abnormality of the pinna Prominent nasal bridge Coarse facial features Wide intermamillary distance Macrotia Short neck Dry skin Neonatal hypotonia Broad nasal tip Everted lower lip vermilion Thin upper lip vermilion Abnormal heart morphology Fragile nails Short palpebral fissure Gastroesophageal reflux Oxycephaly Long philtrum Frontal bossing Behavioral abnormality Abnormality of the intrinsic pathway Thick cerebral cortex Fragmented elastic fibers in the dermis Abnormality of the cheek Prominent veins on trunk Large for gestational age Slender long bones with narrow diaphyses Small, conical teeth Atrial septal dilatation Multiple plantar creases High nonceruloplasmin-bound serum copper Excessive skin wrinkling on dorsum of hands and fingers Premature rupture of membranes Neonatal wrinkled skin of hands and feet Multiple palmar creases Overlapping toe Tics Conductive hearing impairment Vertebral segmentation defect Short philtrum Supernumerary nipple Hyperlordosis Dyspnea Feeding difficulties in infancy Muscular hypotonia of the trunk Polydactyly Respiratory distress Thoracic dysplasia Respiratory failure Retrognathia Vertebral fusion Constipation Recurrent infections Clinodactyly of the 5th finger Abnormal isoelectric focusing of serum transferrin Palmoplantar cutis laxa Prominent nasolabial fold Progressive microcephaly Hypoplastic facial bones Abnormality of the zygomatic bone Scapular winging Rib fusion Coxa vara Abnormality of the skeletal system Wormian bones Dandy-Walker malformation Enlarged epiphyses Status epilepticus Self-mutilation Progressive cerebellar ataxia Sprengel anomaly Rectovaginal fistula Neurodevelopmental delay Kyphoscoliosis Dilatation Abnormality of the mandible Nasal speech Kyphosis Long face Short nail Abnormal pupil morphology Dimple chin Deep plantar creases Shawl scrotum Hypoplasia of the musculature Deep palmar crease Recurrent sinopulmonary infections Delayed cranial suture closure Abnormal anterior chamber morphology Slender long bone Slurred speech Abnormal cornea morphology Infantile muscular hypotonia Rieger anomaly Decreased muscle mass Birth length less than 3rd percentile Generalized joint laxity Hemivertebrae Iris coloboma Anxiety Pectus carinatum Attention deficit hyperactivity disorder Nephrotic syndrome Low anterior hairline Craniosynostosis Low-set, posteriorly rotated ears Increased intraocular pressure Hydronephrosis Cleft upper lip Hypothyroidism Mandibular prognathia Cerebral cortical atrophy Polyhydramnios Long eyelashes Hyporeflexia Patent ductus arteriosus Abnormal vertebral morphology Synophrys Cleft lip Ventriculomegaly Low posterior hairline Decreased fetal movement Microdontia of primary teeth Bifid ribs Narrow forehead Intention tremor Growth hormone deficiency Tall stature Postaxial hand polydactyly Talipes Renal agenesis Gingival overgrowth Abnormality of the ribs Spontaneous abortion Vesicoureteral reflux Highly arched eyebrow Unsteady gait Thick eyebrow Tremor Beaking of vertebral bodies Arachnodactyly Poor suck Bell-shaped thorax Long foot Metatarsus adductus Phimosis Clitoral hypertrophy Neonatal respiratory distress Flat occiput Narrow palate Broad philtrum Preauricular skin tag Narrow face Sparse eyelashes Optic disc pallor Specific learning disability Postaxial polydactyly High, narrow palate Single transverse palmar crease Ovoid vertebral bodies Abnormal lip morphology Abnormality of upper lip Round ear Long palm Muscle flaccidity Laryngeal stridor Bull's eye maculopathy Poliosis Narrow palm Chorioretinal dystrophy Thin eyebrow Hyperextensibility of the finger joints Broad eyebrow Auricular tag Choroideremia Vaginal fistula Bilateral conductive hearing impairment Diastema Hypocholesterolemia Abnormality of the optic nerve Slanting of the palpebral fissure Severe visual impairment Posterior embryotoxon Camptodactyly Redundant skin Hypertrichosis Omphalocele Ambiguous genitalia Hypoplasia of penis Short metacarpal Toe syndactyly Finger syndactyly Abnormality of the outer ear Camptodactyly of finger Abnormality of the genital system Flexion contracture Cognitive impairment Forehead hyperpigmentation Punctate cataract Posterior wedging of vertebral bodies Posterior Y-sutural cataract Atresia of the external auditory canal Ectropion Sutural cataract High-frequency hearing impairment Absent hair Cryptophthalmos Abnormality of female external genitalia Short upper lip Absent nipple Overbite Breast hypoplasia Labial hypoplasia Cutaneous syndactyly Aplasia/Hypoplasia of the nipples Abnormality of finger Absent eyelashes Hypoplasia of the zygomatic bone Corneal erosion Shallow orbits Hypoplastic nipples Abnormality of the mouth High iliac wings Narrow iliac wings Microtia, third degree Postnatal microcephaly Broad thumb Ectodermal dysplasia Abnormal cardiac septum morphology Abnormality of cardiovascular system morphology Ventricular septal defect Maxillary lateral incisor microdontia Macroorchidism X-linked dominant inheritance Widely spaced teeth Thick vermilion border Poor speech Hypermetropia Autistic behavior Broad forehead Aggressive behavior X-linked recessive inheritance Obesity Sparse scalp hair Atrioventricular canal defect Hypoplasia of teeth Bifid uvula Decreased skull ossification Capillary hemangioma Premature loss of teeth Brittle hair Hemangioma Hyperpigmentation of the skin Large fontanelles Prominent nose Pulmonic stenosis Premature loss of primary teeth Ureterocele Broad neck Overfolded helix Scrotal hypoplasia Tapered finger Hypospadias Microphthalmia Short digit Ablepharon Hypoplasia of eyelid Insulin-resistant diabetes mellitus Clinodactyly Small for gestational age Deeply set eye Neurological speech impairment Weight loss Diabetes mellitus Glaucoma Severe short stature Alopecia Triangular face Depressivity Delayed skeletal maturation Coma Brachydactyly Milia Sensorineural hearing impairment Abnormality of mucopolysaccharide metabolism Abnormality of ganglioside metabolism Downturned corners of mouth Abnormality of the skin Oligosacchariduria Hyperglycemia Hypoplasia of the iris Poor appetite Megalocornea Congenital glaucoma Lipoatrophy Reduced subcutaneous adipose tissue Abnormality of the immune system Glucose intolerance Increased body weight Hypodontia Radial deviation of finger Calcinosis Nephrocalcinosis Abnormality of dental enamel Insulin resistance Abnormality of the face Hypotrichosis Bilateral sensorineural hearing impairment Truncal titubation Progressive psychomotor deterioration Ventral hernia Babinski sign Ranula Developmental regression Retinopathy Hepatosplenomegaly EEG abnormality Photophobia Reduced visual acuity Dystonia Abnormality of the cerebral white matter Cerebellar atrophy Gait disturbance Splenomegaly Infantile onset Hyperreflexia Spasticity Ataxia Long uvula Retinal degeneration Palmoplantar keratoderma Hoarse cry Genu recurvatum Cerebral dysmyelination Dysplastic corpus callosum Esodeviation Titubation Decreased light- and dark-adapted electroretinogram amplitude Aplasia/Hypoplasia of the abdominal wall musculature Developmental stagnation Motor deterioration Increased serum ferritin Retinal dystrophy Palpebral edema Abnormality of abdomen morphology Gout Biparietal narrowing Aspiration Abnormal electroretinogram Abnormality of retinal pigmentation Spastic tetraplegia Exodeviation


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