Delayed speech and language development, and Dental malocclusion

Diseases related with Delayed speech and language development and Dental malocclusion

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


Top matches:

Medium match OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE

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

Related symptoms:

  • Autosomal recessive inheritance
  • Global developmental delay
  • Short stature
  • Pica
  • Micrognathia


SOURCES: GARD OMIM UMLS MESH MONDO

More info about OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE

Medium match RUBINSTEIN-TAYBI SYNDROME 2; RSTS2

Rubinstein-Taybi syndrome (RSTS) is a multiple congenital anomaly syndrome characterized by mental retardation, postnatal growth deficiency, microcephaly, broad thumbs and halluces, and dysmorphic facial features. The classic facial appearance is striking, with highly arched eyebrows, long eyelashes, downslanting palpebral fissures, broad nasal bridge, beaked nose with the nasal septum, highly arched palate, mild micrognathia, and characteristic grimacing or abnormal smile (Rubinstein and Taybi, 1963; review by Hennekam, 2006).About 50 to 70% of patients have RSTS1 due to mutation in the CREBBP gene (OMIM ). RSTS2 is much less common, and about 3% of patients have mutations in the EP300 gene. RSTS2 appears to be associated with a milder phenotype than RSTS1. Patients with RSTS2 have less severe facial dysmorphism and better cognitive function, but may have more severe microcephaly and malformation of facial bone structures compared to those with RSTS1 (Bartsch et al., 2010).For a discussion of genetic heterogeneity of Rubinstein-Taybi syndrome, see RSTS1 (OMIM ).

RUBINSTEIN-TAYBI SYNDROME 2; RSTS2 Is also known as ;

Related symptoms:

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


SOURCES: MONDO OMIM ORPHANET UMLS

More info about RUBINSTEIN-TAYBI SYNDROME 2; RSTS2

Medium match GERODERMA OSTEODYSPLASTICUM; GO

Geroderma osteodysplastica (GO) is characterized by lax and wrinkled skin (especially on the dorsum of the hands and feet and abdomen), progeroid features, hip dislocation, joint laxity, severe short stature/dwarfism, severe osteoporosis, vertebral abnormalities and spontaneous fractures, and developmental delay and mild intellectual deficit.

GERODERMA OSTEODYSPLASTICUM; GO Is also known as gerodermia osteodysplastica, walt disney dwarfism;

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Global developmental delay
  • Microcephaly
  • Scoliosis


SOURCES: SCTID MESH OMIM ORPHANET MONDO GARD UMLS

More info about GERODERMA OSTEODYSPLASTICUM; GO

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Other less relevant matches:

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 CHROMOSOME 15q13.3 DELETION SYNDROME

Heterozygous deletion of chromosome 15q13.3 is associated with a highly variable phenotype, even within families segregating the same deletion. Individuals with the deletion may have mild to moderate mental retardation or learning difficulties, or may have no cognitive deficits. Some individuals have epilepsy. Various dysmorphic features have been described, but there is no consistent or recognizable phenotype (review by van Bon et al., 2009). Patients with homozygous deletions in this region have severe neurodevelopmental problems, with epileptic encephalopathy, hypotonia, and poor growth (Endris et al., 2010).

CHROMOSOME 15q13.3 DELETION SYNDROME Is also known as chromosome 15q13.3 microdeletion syndrome;del(15)(q13.3); monosomy 15q13.3

Related symptoms:

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


SOURCES: ORPHANET GARD OMIM UMLS MONDO MESH DOID SCTID

More info about CHROMOSOME 15q13.3 DELETION SYNDROME

Medium match POTOCKI-LUPSKI SYNDROME; PTLS

17p11.2 microduplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 17, typically characterized by hypotonia, poor feeding, failure to thrive, developmental delay (particularly cognitive and language deficits), mild-moderate intellectual deficit, and neuropsychiatric disorders (behavioral problems, anxiety, attention deficit hyperactivity disorder, autistic spectrum disorder, bipolar disorder). Structural cardiovascular anomalies (dilated aortic root, bicommissural aortic valve, atrial/ventricular and septal defects) and sleep disturbance (obstructive and central sleep apnea) are also frequently associated.

POTOCKI-LUPSKI SYNDROME; PTLS Is also known as chromosome 17p11.2 duplication syndrome;potocki-lupski syndrome; trisomy 17p11.2

Related symptoms:

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


SOURCES: OMIM MONDO NCIT GARD UMLS ORPHANET DOID SCTID

More info about POTOCKI-LUPSKI SYNDROME; PTLS

Medium match WOODHOUSE-SAKATI SYNDROME

Woodhouse-Sakati syndrome is a multisystemic disorder characterized by hypogonadism, alopecia, diabetes mellitus, intellectual deficit and extrapyramidal signs with choreoathetoid movements and dystonia.

WOODHOUSE-SAKATI SYNDROME Is also known as hypogonadism, alopecia, diabetes mellitus, mental retardation, deafness, and extrapyramidal syndrome, extrapyramidal disorder, progressive, with primary hypogonadism, mental retardation, and alopecia;diabetes-hypogonadism-deafness-intellectual disability syndrome

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Scoliosis


SOURCES: GARD SCTID ORPHANET OMIM MONDO UMLS MESH

More info about WOODHOUSE-SAKATI SYNDROME

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

Medium match ACRODYSOSTOSIS 1 WITH OR WITHOUT HORMONE RESISTANCE; ACRDYS1

Acrodysostosis-1 is a form of skeletal dysplasia characterized by short stature, severe brachydactyly, facial dysostosis, and nasal hypoplasia. Affected individuals often have advanced bone age and obesity. Laboratory studies show resistance to multiple hormones, including parathyroid, thyrotropin, calcitonin, growth hormone-releasing hormone, and gonadotropin (summary by Linglart et al., 2011). However, not all patients show endocrine abnormalities (Lee et al., 2012). Genetic Heterogeneity of AcrodysostosisSee also ACRDYS2 (OMIM ), caused by mutation in the PDE4D gene (OMIM ) on chromosome 5q12.

ACRODYSOSTOSIS 1 WITH OR WITHOUT HORMONE RESISTANCE; ACRDYS1 Is also known as adohr

Related symptoms:

  • Autosomal dominant inheritance
  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Scoliosis


SOURCES: UMLS OMIM MONDO NCIT

More info about ACRODYSOSTOSIS 1 WITH OR WITHOUT HORMONE RESISTANCE; ACRDYS1

Medium match CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ie; CDG1E

Congenital disorders of glycosylation (CDGs) are metabolic deficiencies in glycoprotein biosynthesis that usually cause severe mental and psychomotor retardation. Different forms of CDGs can be recognized by altered isoelectric focusing (IEF) patterns of serum transferrin.For a general discussion of CDGs, see CDG Ia (OMIM ) and CDG Ib (OMIM ).

CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ie; CDG1E Is also known as cdg ie;cdgie;cdg syndrome type ie; cdg-ie; cdg1e; carbohydrate deficient glycoprotein syndrome type ie; congenital disorder of glycosylation type 1e; congenital disorder of glycosylation type ie; dol-p-mannosyltransferase deficiency

Related symptoms:

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


SOURCES: NCIT SCTID ORPHANET MONDO GARD UMLS OMIM MESH

More info about CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ie; CDG1E

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

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Hypertelorism Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases
Mendelian

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Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Micrognathia

Uncommon Symptoms - Between 30% and 50% cases


Failure to thrive

Common Symptoms - More than 50% cases


Downslanted palpebral fissures

Uncommon Symptoms - Between 30% and 50% cases


Scoliosis Cognitive impairment Intellectual disability, mild Hypoplasia of the maxilla Autosomal dominant inheritance Autosomal recessive inheritance Hearing impairment Pica Myopia Frontal bossing Milia Abnormal facial shape Epicanthus Muscular hypotonia Seizures EEG abnormality Camptodactyly Strabismus Triangular face Malar flattening Hernia Short palm Mandibular prognathia Growth delay Autism Thin skin Brachydactyly Hypothyroidism Generalized hypotonia Depressed nasal bridge Small hand Delayed skeletal maturation Underdeveloped nasal alae Fine hair Clinodactyly Motor delay Abnormality of the dentition Syndactyly Delayed eruption of teeth Microcornea

Rare Symptoms - Less than 30% cases


Thin vermilion border Corneal opacity Hypodontia Hyperactivity Joint hyperflexibility Hip dislocation Deeply set eye Abnormality of the eye Abnormal heart morphology Prominent nasal tip Joint laxity Telecanthus Macrotia Short metacarpal Microdontia Toe syndactyly Severe short stature Flat occiput Flexion contracture Sparse hair Abnormality of the genital system Brachycephaly Anxiety Optic atrophy Anteverted nares Attention deficit hyperactivity disorder Severe global developmental delay Premature skin wrinkling Protruding ear Short nose Wide mouth Melanocytic nevus Athetosis Insulin-resistant diabetes mellitus Choreoathetosis Abnormality of the outer ear Cataract Redundant skin Abnormality of vision Cutis laxa Abnormality of the pinna Nystagmus Congenital hip dislocation Abnormality of dental morphology Retinopathy Dental crowding Delayed myelination Overbite Intrauterine growth retardation High palate Sparse scalp hair Cryptorchidism Diabetes mellitus Abnormality of dental enamel Sporadic Alopecia Trigonocephaly Edema Prominent forehead Sensorineural hearing impairment Long nose Excessive wrinkled skin Macrocephaly Hypogonadism Smooth philtrum Prominent nose Autistic behavior Midface retrusion Feeding difficulties Abnormality of cardiovascular system morphology Short chin Wide nasal bridge Dysarthria Sparse eyebrow Apnea Small for gestational age Bilateral sensorineural hearing impairment Intellectual disability, severe Prominent nasal bridge Downturned corners of mouth Coma Neurological speech impairment Weight loss Joint hypermobility Inguinal hernia Oxycephaly Abnormal macular morphology Progressive extrapyramidal movement disorder Hypoplasia of the fallopian tube Reduced antithrombin III activity Progressive alopecia Glaucoma Depressivity Abnormal T-wave Reduced protein C activity Upper limb undergrowth Premature ovarian insufficiency Decreased serum insulin-like growth factor 1 Dystonia Sensory neuropathy Abnormality of movement Delayed puberty Arthrogryposis multiplex congenita Mental deterioration High forehead Micropenis Babinski sign Diarrhea Decreased testicular size Abnormality of metabolism/homeostasis Gait disturbance Tics Hyperreflexia Peripheral neuropathy Receptive language delay Central sleep apnea Expressive language delay Polyneuropathy Amenorrhea Abnormal spermatogenesis Aplasia/Hypoplasia of the eyebrow Streak ovary Increased thyroid-stimulating hormone level Decreased serum estradiol Decreased serum testosterone level Anodontia Heart block Autoimmune thrombocytopenia Hypoplasia of the uterus Hyperlipidemia Abnormality of extrapyramidal motor function Purpura Hypogonadotrophic hypogonadism Hallucinations Hypergonadotropic hypogonadism Dehydration Myocardial infarction Primary amenorrhea Psychosis Abnormality of the skin Abnormal pupil morphology Hypotrichosis Splenomegaly Absent speech Progressive Recurrent infections Elevated serum creatine phosphokinase Patent ductus arteriosus Respiratory distress Cerebral atrophy Cerebellar atrophy Tremor Infantile onset Elevated hepatic transaminase Hypertension Hepatomegaly Myopathy Type I transferrin isoform profile Ataxia Neonatal epiphyseal stippling Mild postnatal growth retardation Narrow vertebral interpedicular distance Abnormal myelination Calvarial hyperostosis Gait ataxia Abnormal pyramidal sign Hypoplastic vertebral bodies Truncal ataxia Ankle contracture Weak cry Lower limb hyperreflexia Increased variability in muscle fiber diameter Poor suck Venous thrombosis Decreased liver function Hemangioma Knee flexion contracture Telangiectasia Postnatal microcephaly Muscular dystrophy Progressive neurologic deterioration Cortical visual impairment Intention tremor Prolonged partial thromboplastin time Pontocerebellar atrophy Deep venous thrombosis Febrile seizures Nail dysplasia High, narrow palate Dysmetria Thyroid hypoplasia Long hallux Abnormality of the face Reduced subcutaneous adipose tissue Abnormal anterior chamber morphology Dimple chin Increased intraocular pressure Posterior embryotoxon Hypoplasia of the iris Poor appetite Megalocornea Congenital glaucoma Lipoatrophy Abnormality of the immune system Rieger anomaly Glucose intolerance Hyperglycemia Increased body weight Prominent supraorbital ridges Radial deviation of finger Lipodystrophy Calcinosis Nephrocalcinosis Opacification of the corneal stroma Insulin resistance Abnormal cornea morphology Birth length less than 3rd percentile Constrictive median neuropathy Dextrocardia Menstrual irregularities Elevated circulating parathyroid hormone level Blue irides Cone-shaped epiphyses of the phalanges of the hand Spinal canal stenosis Mild short stature Epiphyseal stippling Mixed hearing impairment Dislocated radial head Broad palm Disproportionate short-limb short stature Enlarged epiphyses Short metatarsal Accelerated skeletal maturation Short phalanx of finger Open mouth Broad nasal tip Hydrocephalus Hypocholesterolemia Abnormality of the zygomatic bone Hypoplastic facial bones Abnormality of the mandible Poor fine motor coordination Deep philtrum Speech apraxia Abnormal form of the vertebral bodies Irregular vertebral endplates Prematurely aged appearance Femoral bowing Tibial bowing Hyperextensible skin Wormian bones Bowing of the long bones Abnormality of epiphysis morphology Recurrent fractures Progeroid facial appearance Talipes Platyspondyly Pectus carinatum Kyphoscoliosis Pes planus Osteopenia Osteoporosis Posterior helix pit Protuberant abdomen Vertebral compression fractures Eclampsia Finger syndactyly Sacral dimple Hypertrichosis Omphalocele Ambiguous genitalia Hypoplasia of penis Abnormality of skin pigmentation Dry skin Microtia Camptodactyly of finger Beaking of vertebral bodies Umbilical hernia Talipes equinovarus Visual impairment Stooped posture Pseudoepiphyses Abnormal bone ossification Biconcave vertebral bodies Hyperextensibility of the finger joints Periodontitis Mild myopia Pes valgus Ectropion Hyperostosis Cranial hyperostosis Cutaneous syndactyly of toes Hypoplasia of teeth Mild global developmental delay Large earlobe Spinal cord compression Narrow nose Basal ganglia calcification Sparse eyelashes Persistent pupillary membrane Overgrowth Large fontanelles Short palpebral fissure Short foot Narrow mouth Microphthalmia Long philtrum Low-set ears Broad long bones Macrodontia of permanent maxillary central incisor Low hanging columella Convex nasal ridge Preeclampsia Overlapping toe Delayed gross motor development Broad hallux Narrow palate Long eyelashes Broad thumb Intestinal malrotation Premature birth Fifth finger distal phalanx clinodactyly Hirsutism Highly arched eyebrow Carious teeth Genu valgum Retrognathia Congenital onset Pneumonia 2-4 toe cutaneous syndactyly 4-5 finger syndactyly Atresia of the external auditory canal Cutaneous syndactyly Abnormality of the pharynx Numerous nevi Neonatal hypotonia Feeding difficulties in infancy Gastroesophageal reflux Hypoplasia of the corpus callosum Dysphagia Cleft palate Abnormality of the palpebral fissures Increased head circumference Eclabion Broad forehead Deep palmar crease Thick upper lip vermilion Short attention span Short 4th metacarpal Bipolar affective disorder Obsessive-compulsive behavior Impulsivity Phimosis Low-set, posteriorly rotated ears Abnormality of the kidney Schizophrenia Infantile muscular hypotonia Oral-pharyngeal dysphagia Abnormality of chromosome segregation Echolalia High hypermetropia Poor eye contact Abnormal renal morphology Abnormality of the vasculature Dysphasia Open bite Hypermetropia Failure to thrive in infancy Language impairment Sleep apnea Hamartoma Patent foramen ovale Hypercholesterolemia Stereotypy Abnormality of the cardiovascular system Bifid uvula Triphalangeal thumb Finger clinodactyly Absent eyebrow High-frequency hearing impairment Absent hair Cryptophthalmos Abnormality of female external genitalia Short upper lip Absent nipple Abnormal nasal morphology Conical tooth Breast hypoplasia Labial hypoplasia Microtia, third degree Aplasia/Hypoplasia of the nipples Abnormal hair pattern Abnormality of finger Absent eyelashes Hypoplasia of the zygomatic bone Corneal erosion Shallow orbits Hypoplastic nipples Abnormality of the mouth Ablepharon Hypoplasia of eyelid Epileptic encephalopathy Aggressive behavior Narrow forehead Specific learning disability Poor speech Tapered finger Bulbous nose Synophrys Short philtrum Blepharophimosis Thin upper lip vermilion Ventral hernia Intellectual disability, moderate Upslanted palpebral fissure Encephalopathy Obesity Clinodactyly of the 5th finger Behavioral abnormality Atrial septal defect Nevus Long uvula Reduced protein S activity


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