Epicanthus, and Hypodontia

Diseases related with Epicanthus and Hypodontia

In the following list you will find some of the most common rare diseases related to Epicanthus and Hypodontia that can help you solving undiagnosed cases.

Top matches:

Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by Huber and Cormier-Daire, 2012 and Schmidts et al., 2013). There is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, {218330}).SRTD15 is characterized by narrow thorax, oral and cardiovascular anomalies, short long bones, and postaxial polydactyly, in addition to other congenital anomalies. Considerable variability in features and in severity has been reported, with some affected individuals succumbing shortly after birth and others living to adulthood, even within the same family.For a discussion of genetic heterogeneity of short-rib thoracic dysplasia with or without polydactyly, see SRTD1 (OMIM ).

Related symptoms:

  • Short stature
  • Scoliosis
  • Abnormal facial shape
  • Low-set ears
  • Depressed nasal bridge


SOURCES: OMIM MENDELIAN

More info about SHORT-RIB THORACIC DYSPLASIA 15 WITH POLYDACTYLY; SRTD15

The Opitz GBBB syndrome is a congenital midline malformation syndrome characterized by hypertelorism, hypospadias, cleft lip/palate, laryngotracheoesophageal abnormalities, imperforate anus, developmental delay, and cardiac defects (So et al., 2005).This disorder was first reported as 2 separate entities, BBB syndrome and G syndrome; subsequent reports of families in which the BBB and G syndromes segregated within a single kindred suggested that they represent a single entity. Genetic HeterogeneitySee also GBBB2 (OMIM ), caused by mutation in the SPECC1L gene (OMIM ) on chromosome 22q11.

OPITZ GBBB SYNDROME, TYPE I; GBBB1 Is also known as opitz bbbg syndrome, type i|opitz syndrome|os|opitz syndrome, x-linked|ogs1|hypertelorism-hypospadias syndrome|osx|telecanthus-hypospadias syndrome|opitz gbbb syndrome, x-linked|bbbg1|hypertelorism with esophageal abnormality and hypospadias|opitz-g syndr

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hypertelorism
  • Sensorineural hearing impairment
  • Cleft palate


SOURCES: OMIM ORPHANET MENDELIAN

More info about OPITZ GBBB SYNDROME, TYPE I; GBBB1

Other less relevant matches:

Peroxisomal acyl-CoA oxidase deficiency is a rare neurodegenerative disorder that belongs to the group of inherited peroxisomal disorders and is characterized by hypotonia and seizures in the neonatal period and neurological regression in early infancy.

PEROXISOMAL ACYL-COA OXIDASE DEFICIENCY Is also known as pseudoneonatal adrenoleukodystrophy|pseudo-neonatal adrenoleukodystrophy|pseudo-nald|pseudoadrenoleukodystrophy|straight-chain acyl-coa oxidase deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Hypertelorism


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about PEROXISOMAL ACYL-COA OXIDASE DEFICIENCY

Autosomal dominant mental retardation-44 is characterized by mildly delayed global development, resulting in variable intellectual deficits or learning difficulties, distinctive facial features, and abnormalities of the fingers, particularly brachydactyly, tapering fingers, and broad interphalangeal joints. Most patients also have microcephaly; additional features are highly variable (summary by Ba et al., 2016).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Micrognathia


SOURCES: OMIM ORPHANET MENDELIAN

More info about MICROGNATHIA-RECURRENT INFECTIONS-BEHAVIORAL ABNORMALITIES-MILD INTELLECTUAL DISABILITY SYNDROME

Autosomal dominant Robinow syndrome (DRS) is the more common type of Robinow syndrome (RS, see this term) characterized by mild to moderate limb shortening and abnormalities of the head, face and external genitalia.

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about AUTOSOMAL DOMINANT ROBINOW SYNDROME

Oral-facial-digital syndrome type 1 (OFD1) is a rare neurodevelopmental disorder in the ciliopathy group that is lethal in males and characterized by variable anomalies including external malformations (craniofacial and digital), and possible involvement of the central nervous system (CNS) and of viscera (kidneys, pancreas and ovaries) in females.

OROFACIODIGITAL SYNDROME TYPE 1 Is also known as ofd1|papillon-lÉage-psaume syndrome|ofdsi|oral-facial-digital syndrome type 1|ofdi

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Ataxia
  • Hypertelorism


SOURCES: ORPHANET MENDELIAN

More info about OROFACIODIGITAL SYNDROME TYPE 1

Ehlers-Danlos syndromes (EDS) form a heterogeneous group of hereditary connective tissue diseases characterized by joint hyperlaxity, cutaneous hyperelasticity and tissue fragility. The dermatosparaxis type (formerly called EDS type VIIC) is marked by extremely fragile tissues, hyperextensible skin and easy bruising. Facial skin contains numerous folds, as in the cutis laxa syndrome. Umbilical or inguinal hernias have also been described. Dermatosparaxis is extremely rare and few cases only have been reported. The disease is transmitted as an autosomal recessive trait. It is due to N-terminal procollagen I peptidase deficiency causing abnormal maturation of the alpha1 (I) and alpha2 (I) collagen I pro-chains, in which the aminoterminal propeptide is incorrectly cleaved. The causative gene, ADAMTS2, has been localised to 5q23. The homozygous mutation Q225X was present in 80% of cases subjected to molecular analysis. There is no specific treatment available for this disease, but symptomatic management should be offered in a specialised centre.

EHLERS-DANLOS SYNDROME, DERMATOSPARAXIS TYPE Is also known as ehlers-danlos syndrome, type vii, autosomal recessive|eds7c|dermatosparaxis|ehlers-danlos syndrome type 7c|eds viic

Related symptoms:

  • Short stature
  • Scoliosis
  • Growth delay
  • Micrognathia
  • Abnormal facial shape


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about EHLERS-DANLOS SYNDROME, DERMATOSPARAXIS TYPE

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:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Scoliosis
  • Hypertelorism


SOURCES: OMIM MENDELIAN

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

Robinow syndrome, a rare skeletal dysplasia syndrome, is characterized by dysmorphic features resembling a fetal face, mesomelic limb shortening, hypoplastic external genitalia in males, and renal and vertebral anomalies (summary by Roifman et al., 2015).For a discussion of genetic heterogeneity of Robinow syndrome, see RRS (OMIM ).

ROBINOW SYNDROME, AUTOSOMAL DOMINANT 1; DRS1 Is also known as robinow dwarfism|acral dysostosis with facial and genital abnormalities|fetal face syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Scoliosis
  • Hypertelorism


SOURCES: OMIM MENDELIAN

More info about ROBINOW SYNDROME, AUTOSOMAL DOMINANT 1; DRS1

Top 5 symptoms//phenotypes associated to Epicanthus and Hypodontia

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Downslanted palpebral fissures Common - Between 50% and 80% cases
Hypertelorism Common - Between 50% and 80% cases
Wide nasal bridge Common - Between 50% and 80% cases
Brachydactyly Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Epicanthus and Hypodontia. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Low-set ears

Uncommon Symptoms - Between 30% and 50% cases

Depressed nasal bridge

Common Symptoms - More than 50% cases

Global developmental delay

Uncommon Symptoms - Between 30% and 50% cases

Scoliosis Micrognathia Frontal bossing Short stature Short palm Seizures Short nose Cone-shaped epiphysis Increased number of teeth High palate Pectus excavatum Anteverted nares Thin upper lip vermilion Long philtrum Cryptorchidism Hearing impairment Limb undergrowth Oral cleft Short phalanx of finger Upslanted palpebral fissure Prominent forehead Midface retrusion Inguinal hernia Severe short stature Respiratory insufficiency Dysphagia Hernia Hypospadias Strabismus Macrocephaly Skeletal dysplasia Posteriorly rotated ears Gingival overgrowth Delayed speech and language development Myopia Retrognathia Open bite Umbilical hernia

Rare Symptoms - Less than 30% cases

Hip dislocation Bifid tongue Hyperreflexia Hydronephrosis Long palpebral fissure Hydrocephalus Capillary hemangioma Hypogonadism Small hand Delayed eruption of teeth Dental malocclusion Hypoplastic labia majora Avascular necrosis of the capital femoral epiphysis Dystonia Finger syndactyly Large fontanelles Femoral hernia Recurrent urinary tract infections Clitoral hypoplasia Short toe Hypertension Pectus carinatum Telecanthus Gastroesophageal reflux Optic atrophy Brachycephaly Micromelia Scarring Short neck Wide nose Downturned corners of mouth Hip dysplasia Dental crowding Blue sclerae Thick vermilion border Wide mouth Facial asymmetry Long eyelashes Clinodactyly of the 5th finger Osteopenia Clinodactyly Hemivertebrae Kyphosis Abnormality of the skeletal system Coxa valga Motor delay Coxa vara Wide anterior fontanel Hand polydactyly Alopecia Elevated hepatic transaminase Proptosis Muscular hypotonia Agenesis of corpus callosum Hepatomegaly Spinal canal stenosis Mesomelia Postaxial hand polydactyly Nail dysplasia Cleft upper lip Cleft lip Polydactyly Patent ductus arteriosus Syndactyly Abnormal facial shape Accessory oral frenulum Oligodontia Microdontia Attention deficit hyperactivity disorder Hyperactivity Recurrent infections Abnormality of the dentition Feeding difficulties Spasticity Microcephaly Generalized hypotonia Median cleft lip Dilatation Sensorineural hearing impairment Cleft palate Hyperkeratosis Disproportionate short-limb short stature Short middle phalanx of the 5th finger Elevated circulating follicle stimulating hormone level Dextrocardia Communicating hydrocephalus Misalignment of teeth Nevus flammeus Abnormality of the pancreas Pancreatic cysts Shawl scrotum Mild short stature Melanocytic nevus Hypoplastic nipples Radial deviation of finger Short metatarsal Increased intracranial pressure Narrow palate Lip pit Accelerated skeletal maturation Osteoporosis Vomiting Edema Growth delay Odontogenic neoplasm Tongue nodules Triangular mouth Hamartoma of tongue Short chin Lobulated tongue Broad alveolar ridges Deviation of finger Hemangioma Hypoplasia of the zygomatic bone Abnormality of the skull Open mouth Abnormality of the face Coarse hair Epiphyseal stippling Reduced bone mineral density Abnormality of dental enamel Multicystic kidney dysplasia Cone-shaped epiphyses of the phalanges of the hand Choanal atresia Chronic otitis media Dandy-Walker malformation Underdeveloped nasal alae Dry skin Fair hair Sparse hair Proteinuria Brittle hair Dislocated radial head Exocrine pancreatic insufficiency Menstrual irregularities Mixed hearing impairment Foot polydactyly Renal duplication Aplasia of the middle phalanx of the hand Broad toe Duplication of the distal phalanx of hand Tarsal synostosis Broad palm Milia Short hard palate Bifid distal phalanx of toe Elevated circulating parathyroid hormone level Preaxial hand polydactyly Short finger Right ventricular outlet obstruction Joint laxity Joint stiffness Constrictive median neuropathy Nevus Gingival hyperkeratosis Enlarged naris Broad nasal tip Blepharochalasis Malar flattening Soft, doughy skin Premature rupture of membranes Neonatal epiphyseal stippling Excessive wrinkled skin Delayed closure of the anterior fontanelle Generalized edema Echolalia Esophagitis Hiatus hernia Spontaneous neonatal pneumothorax Abnormality of subcutaneous fat tissue Gingival bleeding Thyroid hypoplasia Small for gestational age Mandibular prognathia Hypothyroidism Long hallux Hypoplastic vertebral bodies Obesity Hypoplasia of the maxilla Frontal open bite Calvarial hyperostosis Narrow vertebral interpedicular distance Mild postnatal growth retardation Pain Abnormality of primary molar morphology Recurrent mandibular subluxations Soft skin Palpebral edema Hypergonadotropic hypogonadism Sepsis Vesicoureteral reflux Broad thumb Blue irides Abnormal vertebral morphology Hypertrichosis Premature birth Everted lower lip vermilion Macroglossia Hirsutism Bruising susceptibility Joint hypermobility Joint hyperflexibility Short metacarpal Otitis media Thin skin Flat face Osteomalacia Epiphora Abnormal joint morphology Fragile skin Prolonged bleeding time Delayed cranial suture closure Aphasia Dysphasia Delayed skeletal maturation Micropenis Rickets Intracranial hemorrhage Redundant skin Hyperextensible skin Mutism Cutis laxa Joint dislocation Rhizomelia Obsessive-compulsive trait Renal insufficiency Abnormality of the voice Hydrocele testis Bilateral cleft lip and palate Aspiration pneumonia Bilateral cleft lip Double outlet right ventricle Prominent metopic ridge Aspiration Pulmonary artery atresia Congenital diaphragmatic hernia Ambiguous genitalia Intestinal malrotation Smooth philtrum Anal atresia Pneumonia Abnormal heart morphology Widow's peak Volvulus Ventricular septal defect Posterior pharyngeal cleft Blindness Intellectual disability, severe Hypoplasia of the corpus callosum Gait disturbance Failure to thrive Nystagmus Osteoma Abnormality of the pharynx Exstrophy Recurrent aspiration pneumonia Bladder exstrophy Intestinal lymphangiectasia Abnormality of the nasopharynx Right aortic arch Chylothorax Abnormality of cardiovascular system morphology Partial atrioventricular canal defect Abnormality of metabolism/homeostasis Short palpebral fissure Respiratory distress Thin eyebrow Delayed ability to walk Myopathic facies Eosinophilia Narrow palpebral fissure Hypsarrhythmia Polyhydramnios Prominent nose Asthma Unsteady gait Hypermetropia Anxiety Narrow mouth Immunodeficiency Splenomegaly Hepatosplenomegaly Hypoplasia of the epiglottis Hamartoma Hydrometrocolpos Bilateral postaxial polydactyly Horizontal ribs Complete atrioventricular canal defect Vaginal atresia Thoracic dysplasia Short clavicles Metaphyseal dysplasia Narrow chest Atrioventricular canal defect Cutaneous syndactyly Horseshoe kidney Short ribs Small nail Coarctation of aorta Postaxial polydactyly Hypertonia Babinski sign Tremor Ventricular extrasystoles Camptodactyly of finger Ptosis Aplasia of the 1st metacarpal Hyperacusis Mild global developmental delay Abnormality of finger Absent radius High, narrow palate 2-3 toe syndactyly Obsessive-compulsive behavior Abnormality of the hand Low anterior hairline Syncope Tapered finger Short distal phalanx of finger Short philtrum Specific learning disability Poor speech Hypoplastic labia minora Ataxia Onychogryposis of fingernail Naevus flammeus of the eyelid Euryblepharon Abnormality of the penis Ridged fingernail Curly eyelashes Abnormality of the gingiva Hypoplasia of penis Median cleft lip and palate Epispadias Fingernail dysplasia Anodontia Elbow dislocation Sacral dimple Abnormal form of the vertebral bodies Thick eyebrow Synophrys Myoclonus Abnormality of the cerebral white matter Generalized-onset seizure Pigmentary retinopathy Peripheral demyelination Brain atrophy Tetraplegia Retinal degeneration Severe global developmental delay Spastic tetraplegia Neurological speech impairment Retinopathy Irritability Developmental regression Neonatal hypotonia EEG abnormality Respiratory failure Bilateral sensorineural hearing impairment Leukodystrophy Broad forehead Diffuse hepatic steatosis Abnormal cardiac septum morphology Aggressive behavior Pes planus High forehead Macrotia Gait ataxia Behavioral abnormality No social interaction Intellectual disability, progressive Abnormality of nervous system morphology Tapetoretinal degeneration CNS demyelination Decreased light- and dark-adapted electroretinogram amplitude Abnormality of visual evoked potentials Inverted nipples Abnormal electroretinogram Absent penis


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