Delayed speech and language development, and Delayed eruption of teeth

Diseases related with Delayed speech and language development and Delayed eruption of teeth

In the following list you will find some of the most common rare diseases related to Delayed speech and language development and Delayed eruption of teeth 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

Low 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

Low match SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 20; SCAR20

Autosomal recessive spinocerebellar ataxia-20 is a neurodevelopmental disorder characterized by severely delayed psychomotor development with poor or absent speech, wide-based or absent gait, coarse facies, and cerebellar atrophy (summary by Thomas et al., 2014).

SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 20; SCAR20 Is also known as ;autosomal recessive spinocerebellar ataxia type 20; intellectual disability-coarse face-macrocephaly-cerebellar hypoplasia syndrome; scar20

Related symptoms:

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


SOURCES: MONDO ORPHANET OMIM UMLS DOID

More info about SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 20; SCAR20

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Other less relevant matches:

Low match MIDFACE HYPOPLASIA, HEARING IMPAIRMENT, ELLIPTOCYTOSIS, AND NEPHROCALCINOSIS; MFHIEN

Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis is an X-linked recessive disorder with onset of features in early childhood. Anemia is sometimes present. Some patients may show mild early motor or speech delay, but cognition is normal (summary by Andreoletti et al., 2017).

Related symptoms:

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


SOURCES: OMIM UMLS MONDO

More info about MIDFACE HYPOPLASIA, HEARING IMPAIRMENT, ELLIPTOCYTOSIS, AND NEPHROCALCINOSIS; MFHIEN

Low 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 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

Low match COFFIN-SIRIS SYNDROME 6; CSS6

Coffin-Siris syndrome-6 is characterized by short stature, sparse hair, mild to severe intellectual disability, coarse facial features, and variable behavioral anomalies. Some patients have fifth digit clinodactyly with small nails. Other congenital anomalies and seizures may be present. This description is based on reports of 7 unrelated patients (Shang et al., 2015; Van Paemel et al., 2017; Bramswig et al., 2017).For a general phenotypic description and a discussion of genetic heterogeneity of Coffin-Siris syndrome, see CSS1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM DOID MONDO UMLS

More info about COFFIN-SIRIS SYNDROME 6; CSS6

Low match INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO; IGF1RES

Growth delay due to IGF-I resistance is characterised by variable intrauterine and postnatal growth retardation and elevated serum IGF-I levels. Addition features include variable degrees of intellectual deficit, microcephaly and dysmorphism (broad nasal bridge and tip, smooth philtrum, thin upper and everted lower lips, short fingers, clinodactyly, wide-set nipples and pectus excavatum).

INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO; IGF1RES Is also known as somatomedin, end-organ insensitivity to, somatomedin-c, resistance to, igf-i resistance;resistance to igf-1

Related symptoms:

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


SOURCES: ORPHANET OMIM MONDO UMLS GARD SCTID

More info about INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO; IGF1RES

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 SMITH-MAGENIS SYNDROME

Smith-Magenis syndrome (SMS) is a complex genetic disorder characterized by variable intellectual deficit, sleep disturbance, craniofacial and skeletal anomalies, psychiatric disorders, and speech and motor delay.

SMITH-MAGENIS SYNDROME Is also known as 17p11.2 microdeletion syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly


SOURCES: SCTID ORPHANET

More info about SMITH-MAGENIS SYNDROME

Top 5 symptoms//phenotypes associated to Delayed speech and language development and Delayed eruption of teeth

Symptoms // Phenotype % cases
Short stature Very Common - Between 80% and 100% cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Scoliosis Common - Between 50% and 80% cases
Long philtrum Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Hypertelorism

Uncommon Symptoms - Between 30% and 50% cases


Micrognathia

Common Symptoms - More than 50% cases


Failure to thrive

Uncommon Symptoms - Between 30% and 50% cases


Midface retrusion

Common Symptoms - More than 50% cases


Clinodactyly

Uncommon Symptoms - Between 30% and 50% cases


Wide nasal bridge Autosomal recessive inheritance Epicanthus Frontal bossing Hearing impairment Pica Abnormal facial shape Strabismus Autosomal dominant inheritance Intrauterine growth retardation Thin upper lip vermilion Pes planus Talipes equinovarus Prominent forehead Malar flattening Anteverted nares Generalized hypotonia Cleft palate Brachydactyly Cataract Small hand Downslanted palpebral fissures Thin vermilion border Brachycephaly Oxycephaly Cryptorchidism High palate Conductive hearing impairment Short palm Macrocephaly Anxiety Narrow mouth Dental malocclusion Synophrys Microcornea Gastroesophageal reflux Growth delay Joint hypermobility Microdontia Hernia Inguinal hernia Delayed skeletal maturation Smooth philtrum Triangular face Hypoplasia of the maxilla Clinodactyly of the 5th finger Kyphoscoliosis Motor delay Sparse scalp hair Seizures Dental crowding Broad nasal tip Pectus excavatum Short nose Depressed nasal bridge Microcephaly Finger clinodactyly Sensorineural hearing impairment Abnormality of the dentition Lipodystrophy Myopia

Rare Symptoms - Less than 30% cases


Inability to walk Patent foramen ovale Calcinosis Broad forehead Coarse facial features Thick vermilion border Talipes Atrial septal defect Hyporeflexia Muscular hypotonia Absent speech Nephrocalcinosis Stereotypy Constipation Postnatal growth retardation Wormian bones Accelerated skeletal maturation Open mouth Hypothyroidism Mandibular prognathia Hypoplastic facial bones Rieger anomaly Obesity Excessive wrinkled skin Premature skin wrinkling Upslanted palpebral fissure Reduced subcutaneous adipose tissue Milia Radial deviation of finger Congenital hip dislocation Hypodontia Short distal phalanx of finger Attention deficit hyperactivity disorder Hip dislocation Small for gestational age Deeply set eye Neurological speech impairment Diabetes mellitus Severe short stature Delayed cranial suture closure Hypoplasia of the corpus callosum Nystagmus Hypoplasia of teeth Esotropia Bifid uvula Carious teeth Joint hyperflexibility Sparse hair Wide mouth Joint laxity Osteopenia Abnormality of dental enamel Prominent supraorbital ridges Large fontanelles Short palpebral fissure Underdeveloped nasal alae Short foot Toe syndactyly Telecanthus Syndactyly Low-set ears Wide anterior fontanel Optic atrophy Delayed closure of the anterior fontanelle Fragile nails Chronic otitis media Large face Abnormal localization of kidney Diaphragmatic eventration Taurodontia Testicular torsion Abnormality of the ureter Small toe Impaired pain sensation Cognitive impairment Self-injurious behavior Ventricular septal defect Hypertonia Failure to thrive in infancy Congenital onset Prominent nasolabial fold Tented upper lip vermilion Palmoplantar cutis laxa Muscular hypotonia of the trunk Precocious puberty Everted lower lip vermilion Highly arched eyebrow Webbed neck Wide intermamillary distance Lymphoma Aplasia/Hypoplasia of the corpus callosum Blue sclerae Type II diabetes mellitus Hand polydactyly Periventricular leukomalacia High anterior hairline Decreased body weight Single transverse palmar crease Abnormality of the cheek Abnormal tracheobronchial morphology Thick cerebral cortex Posteriorly rotated ears Retrognathia High forehead Hyperactivity Aggressive behavior Abnormality of the intrinsic pathway Low-set, posteriorly rotated ears Multiple palmar creases Prominent veins on trunk Tapered finger High, narrow palate Delayed eruption of primary teeth Thick lower lip vermilion Hip dysplasia Small nail Premature rupture of membranes Slender long bones with narrow diaphyses Plagiocephaly Deep philtrum Abnormality of the hand Short middle phalanx of finger Infantile spasms Abnormal isoelectric focusing of serum transferrin Arachnoid cyst Hyperacusis Epidermal acanthosis Hypercholesterolemia Hoarse voice Status epilepticus Kyphosis Dilatation High nonceruloplasmin-bound serum copper Umbilical hernia Excessive skin wrinkling on dorsum of hands and fingers Joint stiffness Feeding difficulties in infancy Progressive cerebellar ataxia Generalized joint laxity High myopia EEG abnormality Abnormality of cardiovascular system morphology Cerebellar vermis hypoplasia Gait disturbance Short philtrum Dandy-Walker malformation Progressive microcephaly Cutis laxa Coxa vara Ventriculomegaly Peripheral neuropathy Scapular winging Nasal speech Decreased muscle mass Infantile muscular hypotonia Slurred speech Neonatal wrinkled skin of hands and feet Slender long bone Abnormality of the skeletal system Increased serum insulin-like growth factor 1 Recurrent sinopulmonary infections Atrial septal dilatation Renal hypoplasia/aplasia Acanthosis nigricans Sandal gap Hypertriglyceridemia Pterygium Truncal obesity Agitation Abnormal form of the vertebral bodies Severe failure to thrive Small face Fragmented elastic fibers in the dermis Severe intrauterine growth retardation Small, conical teeth Decreased fetal movement Delayed puberty Multiple plantar creases Maternal diabetes Abnormality of the rib cage Perimembranous ventricular septal defect Short nail Esodeviation Sleep disturbance Broad finger Prominent scalp veins Deep plantar creases Retinal detachment Burkitt lymphoma Hypoplasia of the musculature Cleft upper lip Deep palmar crease Hyperglycemia Tics Hepatosplenomegaly High iliac wings Posterior Y-sutural cataract Posterior wedging of vertebral bodies Punctate cataract Forehead hyperpigmentation Ataxia Spasticity Infantile onset Splenomegaly Cerebellar atrophy Cerebral atrophy Babinski sign Cerebellar hypoplasia Cerebral cortical atrophy Camptodactyly Narrow iliac wings Broad philtrum X-linked recessive inheritance Patent ductus arteriosus Short neck Anemia Red urine Wide nasal base Broad face Autistic behavior Relative macrocephaly Hypertrichosis Apraxia Neuronal loss in central nervous system Macroglossia Abnormality of the cerebral white matter Sutural cataract Decreased skull ossification Nephrotic syndrome Basal ganglia calcification Cranial hyperostosis Cutaneous syndactyly of toes Mild global developmental delay Large earlobe Spinal cord compression Narrow nose Long nose Persistent pupillary membrane Hyperostosis Abnormality of dental morphology Sparse eyelashes Overgrowth Fine hair Microphthalmia Broad long bones Macrodontia of permanent maxillary central incisor Capillary hemangioma Wide nose Premature loss of teeth Brittle hair Coarse hair Hemangioma Hyperpigmentation of the skin Prominent nose Abnormality of skin pigmentation Fifth finger distal phalanx clinodactyly Pulmonic stenosis Narrow chest Prominent nasal bridge Skeletal dysplasia 2-4 toe cutaneous syndactyly 4-5 finger syndactyly Hydronephrosis Flat face Feeding difficulties Hypogonadism Dextrocardia Disproportionate short-limb short stature Melanocytic nevus Short metatarsal Short phalanx of finger Short metacarpal Hydrocephalus Dislocated radial head Abnormality of the zygomatic bone Abnormality of the mandible Enlarged epiphyses Birth length less than 3rd percentile Abnormal cornea morphology Abnormal anterior chamber morphology Broad palm Mixed hearing impairment Abnormal pupil morphology Long hallux Neonatal epiphyseal stippling Mild postnatal growth retardation Narrow vertebral interpedicular distance Calvarial hyperostosis Thyroid hypoplasia Hypoplastic vertebral bodies Constrictive median neuropathy Epiphyseal stippling Menstrual irregularities Elevated circulating parathyroid hormone level Blue irides Cone-shaped epiphyses of the phalanges of the hand Spinal canal stenosis Mild short stature Dimple chin Increased intraocular pressure Renal dysplasia Depressivity Corneal opacity Weight loss Abnormal heart morphology Macrotia Glaucoma Alopecia Coma Abnormality of the skin Cleft hard palate Broad distal phalanx of finger Elliptocytosis Large forehead Severe sensorineural hearing impairment Hypercalciuria Downturned corners of mouth Bilateral sensorineural hearing impairment Posterior embryotoxon Abnormality of the immune system Insulin-resistant diabetes mellitus Hypoplasia of the iris Poor appetite Megalocornea Congenital glaucoma Lipoatrophy Glucose intolerance Thin skin Increased body weight Short chin Opacification of the corneal stroma Insulin resistance Abnormality of the face Hypotrichosis Corticospinal tract hypoplasia



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