Intrauterine growth retardation, and Delayed eruption of teeth

Diseases related with Intrauterine growth retardation and Delayed eruption of teeth

In the following list you will find some of the most common rare diseases related to Intrauterine growth retardation and Delayed eruption of teeth that can help you solving undiagnosed cases.

Top matches:

Coffin-Siris syndrome is a congenital malformation syndrome characterized by developmental delay, intellectual disability, coarse facial features, feeding difficulties, and hypoplastic or absent fifth fingernails and fifth distal phalanges. Other more variable features may also occur. Patients with SMARCB1 mutations may have more severe neurodevelopmental deficits including severe intellectual disability, brain structural abnormalities, and no expressive words, as well as scoliosis (summary by Kosho et al., 2014).For a general phenotypic description and a discussion of genetic heterogeneity of Coffin-Siris syndrome, see CSS1 (OMIM ).

COFFIN-SIRIS SYNDROME 3; CSS3 Is also known as mrd15|mental retardation, autosomal dominant 15

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about COFFIN-SIRIS SYNDROME 3; CSS3

Growth delay due to insulin-like growth factor I deficiency is characterised by the association of intrauterine and postnatal growth retardation with sensorineural deafness and intellectual deficit.

GROWTH DELAY DUE TO INSULIN-LIKE GROWTH FACTOR TYPE 1 DEFICIENCY Is also known as igf1 deficiency|primary insulin-like growth factor deficiency|growth retardation with sensorineural deafness and mental retardation|growth delay-deafness- intellectual disability syndrome|igf-1 deficiency

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about GROWTH DELAY DUE TO INSULIN-LIKE GROWTH FACTOR TYPE 1 DEFICIENCY

Cole-Carpenter syndrome is an extremely rare form of bone dysplasia characterized by the features of osteogenesis imperfecta such as bone fragility associated with multiple fractures, bone deformities (metaphyseal irregularities and bowing of the long bones) and blue sclera, in association with growth failure, craniosynostosis, hydrocephalus, ocular proptosis, and distinctive facial features (e.g. frontal bossing, midface hypoplasia, and micrognathia).

COLE-CARPENTER SYNDROME Is also known as bone fragility-craniosynostosis-proptosis-hydrocephalus syndrome|bone fragility with craniosynostosis, ocular proptosis, hydrocephalus, and distinctive facial features

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about COLE-CARPENTER SYNDROME

Other less relevant matches:

GROWTH HORMONE INSENSITIVITY WITH IMMUNODEFICIENCY Is also known as growth hormone insensitivity due to postreceptor defect|laron syndrome due to postreceptor defect

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Hearing impairment
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about GROWTH HORMONE INSENSITIVITY WITH IMMUNODEFICIENCY

Medium match SHORT SYNDROME

SHORT syndrome is a rare inherited condition of multiple anomalies whose name stands for short stature, hyperextensibility of joints, ocular depression, Rieger anomaly (see this term) and teething delay which, along with mild intrauterine growth restriction, partial lipodystrophy, delayed bone age, hernias and progeroid appearance, are manifestations of the disease.

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

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Hypertelorism


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about SHORT SYNDROME

Medium match 3M SYNDROME

3M syndrome is a primordial growth disorder characterized by low birth weight, reduced birth length, severe postnatal growth restriction, a spectrum of minor anomalies (including facial dysmorphism) and normal intelligence.

3M SYNDROME Is also known as le merrer syndrome|3-m syndrome|3m syndrome|gloomy face syndrome|yakut short stature syndrome|dolichospondylic dysplasia

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about 3M SYNDROME

Ellis-van Creveld syndrome (EVC) is a skeletal and ectoderlam dysplasia characterized by a tetrad of short stature, postaxial polydactyly, ectodermal dysplasia, and congenital heart defects.

ELLIS VAN CREVELD SYNDROME Is also known as mesodermic dysplasia|mesoectodermal dysplasia|chondroectodermal dysplasia

Related symptoms:

  • Intellectual disability
  • Short stature
  • Growth delay
  • Failure to thrive
  • Strabismus


SOURCES: OMIM ORPHANET MENDELIAN

More info about ELLIS VAN CREVELD SYNDROME

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:

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


SOURCES: OMIM MENDELIAN

More info about COFFIN-SIRIS SYNDROME 6; CSS6

Miller-Dieker Syndrome (MDS) is a contiguous gene deletion syndrome of chromosome 17p13.3, characterised by classical lissencephaly (lissencephaly type 1) and distinct facial features. Additional congenital malformations can be part of the condition.

MILLER-DIEKER SYNDROME Is also known as monosomy 17p13.3|lissencephaly due to 17p13.3 deletion|mds|telomeric deletion 17p

Related symptoms:

  • Intellectual disability
  • Seizures
  • Microcephaly
  • Ataxia
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about MILLER-DIEKER SYNDROME

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).

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

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about GROWTH DELAY DUE TO INSULIN-LIKE GROWTH FACTOR I RESISTANCE

Top 5 symptoms//phenotypes associated to Intrauterine growth retardation 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
Failure to thrive Common - Between 50% and 80% cases
Growth delay Common - Between 50% and 80% cases
Severe short stature Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Intrauterine growth retardation and Delayed eruption of teeth. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Micrognathia

Uncommon Symptoms - Between 30% and 50% cases

Delayed skeletal maturation

Common Symptoms - More than 50% cases

Abnormal facial shape

Uncommon Symptoms - Between 30% and 50% cases

Global developmental delay

Common Symptoms - More than 50% cases

Clinodactyly

Uncommon Symptoms - Between 30% and 50% cases

Hearing impairment Brachydactyly Prominent forehead Motor delay Microcephaly Frontal bossing Generalized hypotonia Hypertelorism Midface retrusion Small for gestational age Microdontia Abnormality of dental enamel Clinodactyly of the 5th finger Seizures High palate Abnormal heart morphology Anteverted nares Low-set ears Postnatal growth retardation Joint hyperflexibility Decreased body weight Skeletal dysplasia Single transverse palmar crease Pectus excavatum Radial deviation of finger Long philtrum Truncal obesity Short nose Downslanted palpebral fissures Cleft palate Malar flattening Depressed nasal bridge Short long bone Thick vermilion border Deeply set eye Dandy-Walker malformation High pitched voice High forehead Sparse scalp hair Hypoplasia of the corpus callosum Delayed speech and language development Wide nasal bridge Abnormality of cardiovascular system morphology Short distal phalanx of finger Thin vermilion border Scoliosis Blue sclerae Triangular face Atrial septal defect Thin upper lip vermilion

Rare Symptoms - Less than 30% cases

Respiratory distress Short palm Hypodontia Increased body weight Joint laxity Abnormality of the elbow Joint hypermobility Hip dislocation Abnormality of the dentition Cataract Diabetes mellitus Inguinal hernia Hernia Obesity Short ribs Congenital hip dislocation Ventricular septal defect Upslanted palpebral fissure Infantile spasms Deep philtrum Finger clinodactyly Broad nasal tip Short foot Small hand Anxiety Retrognathia Posteriorly rotated ears Epicanthus Heterotopia Polydactyly Talipes equinovarus Cryptorchidism Lipodystrophy Strabismus Horizontal ribs Disproportionate short stature Short thorax Mild short stature Neoplasm Thick lower lip vermilion Everted lower lip vermilion Micromelia Hypospadias Abnormality of the skeletal system Rieger anomaly Premature skin wrinkling Reduced subcutaneous adipose tissue Cognitive impairment Hypoplastic facial bones Attention deficit hyperactivity disorder Feeding difficulties Abnormality of the metaphysis Insulin resistance Kyphosis Hypoglycemia Osteopenia Cafe-au-lait spot Hyperactivity Wormian bones Hydrocephalus Macrocephaly Severe intrauterine growth retardation Wide nose Abnormality of metabolism/homeostasis Muscular hypotonia Myopia Thick eyebrow Coarse facial features Concave nasal ridge Wide mouth Ptosis Sparse hair Bilateral sensorineural hearing impairment Sensorineural hearing impairment Constipation Aggressive behavior Acetabular spurs Stereotypy Abnormality of the alveolar ridges Cone-shaped epiphyses of phalanges 2 to 5 Abnormal corpus callosum morphology Long eyelashes Absent speech Small nail Macroglossia Short philtrum Hip dysplasia Hirsutism Hypertrichosis Conductive hearing impairment Low-set, posteriorly rotated ears Gastroesophageal reflux Kyphoscoliosis Short iliac bones High, narrow palate Tapered finger Coronal craniosynostosis Congenital megaureter Dextrocardia Abnormal heart valve morphology Atrioventricular canal defect Agenesis of permanent teeth Thoracic hypoplasia Hypoplastic left heart Hydroureter Emphysema Abnormality of the ureter Hypoplastic toenails Cubitus valgus Hand polydactyly Abnormality of pelvic girdle bone morphology Renal hypoplasia/aplasia Abnormality of the fingernails Abnormality of the nail Natal tooth Synostosis of carpal bones Capitate-hamate fusion Epispadias Conical incisor Plagiocephaly Abnormal oral frenulum morphology Common atrium Abnormality of bone marrow cell morphology Neonatal short-limb short stature Abnormal oral mucosa morphology Abnormal hair quantity Foot polydactyly Abnormality of female internal genitalia Thoracic dysplasia Hypoplastic iliac wing Acute leukemia Aplasia/Hypoplasia of the lungs Postaxial foot polydactyly Upper limb undergrowth Narrow palpebral fissure Visual impairment Cerebellar hypoplasia Narrow mouth Webbed neck Lymphoma Highly arched eyebrow Inability to walk Smooth philtrum Synophrys Muscular hypotonia of the trunk Hypertonia Type II diabetes mellitus Bitemporal hollowing Midline brain calcifications Type I lissencephaly Abnormality of upper lip Pelvic kidney Decerebrate rigidity Agyria Wide intermamillary distance Epidermal acanthosis Cavum septum pellucidum Maternal diabetes Burkitt lymphoma Prominent scalp veins Broad finger Esodeviation Perimembranous ventricular septal defect Abnormality of the rib cage Small face Severe failure to thrive Accelerated skeletal maturation Multiple cafe-au-lait spots Delayed cranial suture closure Agitation Patent foramen ovale Pterygium Acanthosis nigricans Sandal gap Recurrent aspiration pneumonia Deep palmar crease Abnormality of the hand Testicular torsion EEG abnormality Polyhydramnios Cerebral cortical atrophy Brachycephaly Agenesis of corpus callosum Dysphagia Ataxia Diaphragmatic eventration Spastic paraplegia Periventricular leukomalacia Tics Large forehead High anterior hairline Arachnoid cyst Situs inversus totalis Short middle phalanx of finger Camptodactyly Paraplegia Thick upper lip vermilion Lissencephaly Duodenal atresia Progressive spastic paraplegia Prominent occiput Spastic diplegia Abnormality of neuronal migration Infantile muscular hypotonia Sacral dimple Joint contracture of the hand Flat face Spastic gait Pachygyria Omphalocele Decreased fetal movement Narrow forehead Abnormality of the cardiovascular system Nephropathy Abnormality of the hair Genu valgum Delayed eruption of permanent teeth Recurrent fractures Glaucoma Proptosis Alopecia Craniosynostosis Depressivity Bruising susceptibility Abnormality of the ribs Macrotia Abnormal form of the vertebral bodies Bowing of the long bones Nystagmus Lymphoid interstitial pneumonia Hypoplastic nasal bridge Aplasia/Hypoplasia involving the nose Weight loss Telecanthus Immune dysregulation Abnormality of the skin Opacification of the corneal stroma Short chin Nephrocalcinosis Small placenta Abnormality of the face Thin skin Underdeveloped nasal alae Corneal opacity Dental malocclusion Congenital bilateral ptosis Microcornea Downturned corners of mouth Hypotrichosis Edema Neurological speech impairment Delayed menarche Hydrops fetalis Prelingual sensorineural hearing impairment Central hypotonia Abnormality of the voice Pathologic fracture Pneumonia Hyperthyroidism Recurrent infections Diarrhea Turricephaly Growth hormone deficiency Shallow orbits Orbital craniosynostosis Crumpled long bones Multiple suture craniosynostosis Severe hydrops fetalis Vertebral compression fractures Delayed puberty Progressive visual loss Underdeveloped supraorbital ridges Increased susceptibility to fractures Proportionate short stature Prematurely aged appearance External genital hypoplasia Keratitis Reduced number of teeth Hypercholesterolemia Lymphopenia Eczema Short toe Hypohidrosis Chronic diarrhea Abnormal lung morphology Osteoarthritis Depressed nasal ridge Hypoplasia of penis Prominent supraorbital ridges Hyperglycemia Postaxial hand polydactyly Slender long bone Hypoplastic ischia Enlarged thorax Abnormality of the cerebral vasculature Hypoplastic pelvis Short 5th finger Thin ribs Decreased fertility Hypoplastic pubic bone Hypoplasia of the ulna Rocker bottom foot Neonatal respiratory distress Spina bifida occulta Scapular winging Joint dislocation Hypogonadism Increased vertebral height Narrow face Lacrimal duct aplasia Limb undergrowth Renal agenesis Nail dysplasia Ectodermal dysplasia Postaxial polydactyly Aplasia/Hypoplasia of the distal phalanges of the hand Cleft upper lip Osteoporosis Communicating hydrocephalus Narrow chest Nail dystrophy Pectus carinatum Abnormality of the kidney Behavioral abnormality Intellectual disability, mild Pointed chin Decreased testicular size Glucose intolerance Hypoplasia of the iris Narrow naris Abnormal anterior chamber morphology Excessive wrinkled skin Dimple chin Abnormal pupil morphology Increased intraocular pressure Posterior embryotoxon Short attention span Insulin-resistant diabetes mellitus Megalocornea Poor appetite Abnormality of the immune system Lipoatrophy Neonatal hyperbilirubinemia Congenital glaucoma Abnormality of the mandible Enlarged epiphyses Low posterior hairline Pes planus Bulbous nose Confusion Dolichocephaly Broad forehead Protruding ear Hyperlordosis Mandibular prognathia Birth length less than 3rd percentile Low anterior hairline Dilatation Congenital sensorineural hearing impairment Short neck Abnormality of the mouth Abnormality of the zygomatic bone Severe postnatal growth retardation Increased serum insulin-like growth factor 1


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