Failure to thrive, and Microdontia
Diseases related with Failure to thrive and Microdontia
In the following list you will find some of the most common rare diseases related to Failure to thrive and Microdontia that can help you solving undiagnosed cases.
Top matches:
Medium match MEIER-GORLIN SYNDROME 5; MGORS5
- Microcephaly
- Failure to thrive
- Micrognathia
- Cleft palate
- Cryptorchidism
More info about MEIER-GORLIN SYNDROME 5; MGORS5
Medium match BARBER-SAY SYNDROME
Barber Say syndrome (BSS) is a rare ectodermal dysplasia with neonatal onset characterized by congenital generalized hypertrichosis, atrophic skin, ectropion and microstomia.
BARBER-SAY SYNDROME Is also known as bss|hypertrichosis-atrophic skin-ectropion-macrostomia syndrome|hypertrichosis, atrophic skin, ectropion, and macrostomia
Related symptoms:
- Intellectual disability
- Global developmental delay
- Hearing impairment
- Growth delay
- Hypertelorism
SOURCES: ORPHANET OMIM MESH MENDELIAN
More info about BARBER-SAY SYNDROMEMedium match AXENFELD-RIEGER SYNDROME
Axenfeld-Rieger syndrome (ARS) is a generic term used to designate overlapping genetic disorders, in which the major physical condition is anterior segment dysgenesis of the eye. Patients with ARS may also present with multiple variable congenital anomalies.
AXENFELD-RIEGER SYNDROME Is also known as axenfeld syndrome|anterior chamber cleavage syndrome|rieger syndrome, type 3|rieger syndrome|axenfeld-rieger anomaly with cardiac defects and/or sensorineural hearing loss
Related symptoms:
- Hearing impairment
- Growth delay
- Hypertelorism
- Failure to thrive
- Sensorineural hearing impairment
SOURCES: OMIM ORPHANET MENDELIAN
More info about AXENFELD-RIEGER SYNDROMEOther less relevant matches:
Medium match COLE-CARPENTER SYNDROME
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 SYNDROMEMedium match CRANIOLENTICULOSUTURAL DYSPLASIA
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 Is also known as boyadjiev-jabs syndrome
Related symptoms:
- Short stature
- Scoliosis
- Hypertelorism
- Failure to thrive
- Abnormal facial shape
SOURCES: OMIM ORPHANET MESH MENDELIAN
More info about CRANIOLENTICULOSUTURAL DYSPLASIAMedium match OCULOCEREBROFACIAL SYNDROME, KAUFMAN TYPE
Oculocerebrofacial syndrome, Kaufman type is characterized by psychomotor retardation, microcephaly, upslanting palpebral fissures, eye abnormalities (microcornea, strabismus, myopia, optic atrophy), high-arched palate, preauricular skin tags and micrognathia with respiratory distress. It has been described in about 10 cases. Other anomalies can be present: long thin hands and feet, ambiguous genitalia, hypertelorism, etc. An autosomal recessive mode of inheritance seems most likely.
OCULOCEREBROFACIAL SYNDROME, KAUFMAN TYPE Is also known as mendenhall syndrome|rabson-mendenhall syndrome
Related symptoms:
- Intellectual disability
- Global developmental delay
- Short stature
- Microcephaly
- Growth delay
SOURCES: OMIM ORPHANET MENDELIAN
More info about OCULOCEREBROFACIAL SYNDROME, KAUFMAN TYPEMedium match GROWTH HORMONE INSENSITIVITY WITH IMMUNODEFICIENCY
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
More info about GROWTH HORMONE INSENSITIVITY WITH IMMUNODEFICIENCY
Medium match ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE
ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE Is also known as hay-wells syndrome|aec syndrome
Related symptoms:
- Short stature
- Hearing impairment
- Failure to thrive
- Cleft palate
- Pain
More info about ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE
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 SYNDROMEMedium match SHWACHMAN-DIAMOND SYNDROME
Shwachman-Diamond syndrome (SDS) is a rare multisystemic syndrome characterized by chronic and usually mild neutropenia, pancreatic exocrine insufficiency associated with steatorrhea and growth failure, skeletal dysplasia with short stature, and an increased risk of bone marrow aplasia or leukemic transformation.
SHWACHMAN-DIAMOND SYNDROME Is also known as pancreatic insufficiency and bone marrow dysfunction|shwachman syndrome|shwachman-bodian syndrome|shwachman-diamond syndrome|shwachman-bodian-diamond syndrome|sds|lipomatosis of pancreas, congenital
Related symptoms:
- Intellectual disability
- Global developmental delay
- Short stature
- Generalized hypotonia
- Scoliosis
SOURCES: OMIM ORPHANET MENDELIAN
More info about SHWACHMAN-DIAMOND SYNDROMETop 5 symptoms//phenotypes associated to Failure to thrive and Microdontia
| Symptoms // Phenotype | % cases |
|---|---|
| Short stature | Common - Between 50% and 80% cases |
| Growth delay | Common - Between 50% and 80% cases |
| Micrognathia | Common - Between 50% and 80% cases |
| Delayed eruption of teeth | Uncommon - Between 30% and 50% cases |
| Global developmental delay | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms
Patients with Failure to thrive and Microdontia. may also develop some of the following symptoms:
Uncommon Symptoms - Between 30% and 50% cases
Hearing impairment Hypertelorism Abnormal facial shape Wide nasal bridge Midface retrusion Delayed skeletal maturation Intrauterine growth retardation Low-set ears Intellectual disability Hypoplasia of the maxilla Prominent forehead Cleft palate Telecanthus Microcephaly Malar flattening Thin vermilion border Hypodontia Frontal bossing Scoliosis High palate Brachydactyly Macrocephaly Severe short stature Osteopenia Skeletal dysplasia Joint hyperflexibility Neoplasm Respiratory distress Abnormality of the dentition Sepsis Increased body weight Wide mouth Small for gestational age Hypospadias Feeding difficulties Clinodactyly Triangular face MicrotiaRare Symptoms - Less than 30% cases
Abnormal anterior chamber morphology Motor delay Concave nasal ridge Microcornea Hypoplasia of the iris Posterior embryotoxon Smooth philtrum Hypoglycemia Bilateral sensorineural hearing impairment Insulin resistance Proptosis Glaucoma Abnormal heart morphology Patent ductus arteriosus Hernia Hypotrichosis Birth length less than 3rd percentile Lipodystrophy Rieger anomaly Long philtrum Generalized hypotonia Brittle hair Narrow chest Sparse hair Joint laxity Optic atrophy Delayed speech and language development Cataract Hyperpigmentation of the skin Prominent supraorbital ridges High pitched voice Hyperglycemia Abnormality of dental enamel Abnormality of the metaphysis Blue sclerae Nephrocalcinosis Gastroesophageal reflux Nystagmus Micropenis Myopia Sensorineural hearing impairment Specific learning disability Carious teeth Cryptorchidism Abnormality of the face Depressed nasal ridge Hypertrichosis Abnormality of the skin Underdeveloped nasal alae Dental malocclusion Ectodermal dysplasia High, narrow palate Redundant skin Hirsutism Deeply set eye Dry skin Anteverted nares Hypohidrosis Conductive hearing impairment Eczema Atresia of the external auditory canal Recurrent infections Insulin-resistant diabetes mellitus Mandibular prognathia Alopecia Aplasia/Hypoplasia involving the nose Absent eyelashes Blepharitis Toe syndactyly Pustule Ectrodactyly Keratoconjunctivitis sicca Hyperkeratosis Sparse body hair Agenesis of permanent teeth Syndactyly Supernumerary nipple Ventricular septal defect Chronic sinusitis Trismus Narrow mouth Oral cleft Heat intolerance Pili torti Lymphopenia Conical tooth Selective tooth agenesis Skin erosion Nail dystrophy Short toe Plantar hyperkeratosis Orthokeratosis Abnormality of the nervous system Scarring Ankyloblepharon Anonychia Anhidrosis Delayed menarche Choanal atresia Immune dysregulation Small nail Abnormality of the elbow Underdeveloped supraorbital ridges Proportionate short stature Prematurely aged appearance Fine hair Inflammatory abnormality of the skin Otitis media Palmoplantar keratoderma External genital hypoplasia Split hand Recurrent otitis media Truncal obesity Sinusitis Pain Erythroderma 2-3 toe syndactyly Lymphoid interstitial pneumonia Cleft upper lip Hypercholesterolemia Hypoplastic nasal bridge Hammertoe Short long bone Keratitis Camptodactyly Reduced number of teeth Widely spaced teeth Sparse eyelashes Conjunctivitis Hoarse voice Cleft lip Corneal opacity Hyperconvex nail Pancytopenia Myelodysplasia Leukopenia Coxa vara Recurrent bacterial infections Type I diabetes mellitus Bone marrow hypocellularity Short ribs Decreased liver function Apraxia Neonatal respiratory distress Generalized muscle weakness Neutropenia Ichthyosis Malabsorption Leukemia Pectus carinatum Respiratory tract infection Elevated hepatic transaminase Thrombocytopenia Metaphyseal widening Short thorax Intellectual disability, mild Anterior rib cupping Narrow sacroiliac notch Proximal femoral epiphysiolysis Metaphyseal dysostosis Myocardial necrosis Proximal femoral metaphyseal irregularity Enlargement of the costochondral junction Paroxysmal nocturnal hemoglobinuria Persistence of hemoglobin F Metaphyseal sclerosis Metaphyseal chondrodysplasia Steatorrhea Recurrent aphthous stomatitis Acute monocytic leukemia Recurrent viral infections Aplastic anemia Ovoid vertebral bodies Exocrine pancreatic insufficiency Acute myeloid leukemia Myeloid leukemia Multiple lipomas Immunodeficiency Abnormality of the skeletal system Oval face Weight loss Thin skin Downturned corners of mouth Short palm Joint hypermobility Hip dislocation Neurological speech impairment Abnormal lung morphology Macrotia Diabetes mellitus Congenital hip dislocation Inguinal hernia Depressivity Otitis externa Vaginal dryness Fibrous syngnathia 3-4 toe syndactyly Bilateral choanal atresia Lacrimal duct atresia Patchy alopecia Decreased body weight Short chin Gait disturbance Abnormal pupil morphology Hepatomegaly Anemia Abnormality of the zygomatic bone Hypoplastic facial bones Enlarged epiphyses Abnormality of the mandible Narrow naris Excessive wrinkled skin Dimple chin Premature skin wrinkling Opacification of the corneal stroma Increased intraocular pressure Megalocornea Poor appetite Abnormality of the immune system Lipoatrophy Reduced subcutaneous adipose tissue Congenital glaucoma Glucose intolerance Radial deviation of finger Chronic diarrhea Ovarian neoplasm Osteoarthritis Abnormality of the hypothalamus-pituitary axis Muscular hypotonia Patellar aplasia Irregular epiphyses Retinal vein occlusion Hypoplastic iris stroma Ureteral stenosis Aplasia/Hypoplasia of the iris Anterior segment developmental abnormality Prominent metopic ridge Peters anomaly Ectopia pupillae Aniridia Anal stenosis Cerebellar vermis hypoplasia Congenital diaphragmatic hernia Hypoplasia of the capital femoral epiphysis Mild global developmental delay Slender long bone Abnormal cardiac septum morphology Abnormal form of the vertebral bodies Hyperthyroidism Pathologic fracture Abnormality of the voice Increased susceptibility to fractures Wormian bones Hydrops fetalis Bowing of the long bones Abnormality of the ribs Downslanted palpebral fissures Recurrent fractures Bruising susceptibility Craniosynostosis Thick vermilion border Kyphosis Edema Hydrocephalus Elbow dislocation Everted lower lip vermilion Small earlobe Turricephaly Generalized hirsutism Aplasia/Hypoplasia of the eyebrow Cupped ear Ectropion Sparse eyebrow Dermal atrophy Hyperextensible skin Cutis laxa Low anterior hairline Aplasia/Hypoplasia of the skin Sparse and thin eyebrow Abnormality of the genital system Irregular femoral epiphysis Bulbous nose Talipes equinovarus Abnormality of the pinna Short neck Rigidity Long nose Hypoplastic nipples Abnormality of cardiovascular system morphology Abnormality of female external genitalia Toe clinodactyly Atrial septal defect Depressed nasal bridge Abnormality of male external genitalia Ablepharon Frontal hirsutism Mild hearing impairment Generalized hypertrichosis Shawl scrotum Broad alveolar ridges Breast aplasia Sparse or absent eyelashes Gingival fibromatosis Absent nipple Skin tags Taurodontia Inverted nipples Central hypotonia Shallow orbits Hypoplasia of penis Clitoral hypertrophy Thick nail Abnormality of the optic nerve Long foot Ketoacidosis Protuberant abdomen Flat occiput Absent eyebrow Precocious puberty Long penis Hyperinsulinemia Acanthosis nigricans Narrow face Preauricular skin tag Short palpebral fissure Epidermal acanthosis Abdominal distention Long face Fasting hypoglycemia Advanced eruption of teeth Short philtrum Cognitive impairment Progressive visual loss Growth hormone deficiency Delayed puberty High forehead Pneumonia Obesity Diarrhea Seizures Thin eyebrow Onychauxis Abnormality of upper lip Postprandial hyperglycemia Muscle flaccidity Chorioretinal dystrophy Diabetic ketoacidosis Abnormal lip morphology Choroideremia Arachnodactyly Blepharophimosis Coronal craniosynostosis Pulmonic stenosis Wide anterior fontanel Large fontanelles Esotropia Prominent nose Bifid uvula Wide nose Abnormality of skin pigmentation Prominent nasal bridge Coarse hair Thin upper lip vermilion Pes planus Orbital craniosynostosis Crumpled long bones Multiple suture craniosynostosis Severe hydrops fetalis Vertebral compression fractures Communicating hydrocephalus Hemangioma Premature loss of teeth Coarse facial features Forehead hyperpigmentation Retrognathia Dyspnea Respiratory failure Brachycephaly Upslanted palpebral fissure Epicanthus Strabismus Punctate cataract Capillary hemangioma Posterior wedging of vertebral bodies Posterior Y-sutural cataract Sutural cataract High iliac wings Narrow iliac wings Hypoplasia of teeth Delayed closure of the anterior fontanelle Decreased skull ossification Irregular ossification at anterior rib endsIf you liked this article maybe you will also find interesting the following in-depth articles about 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