Epicanthus, and Pectus carinatum

Diseases related with Epicanthus and Pectus carinatum

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

Top matches:

20p12.3 microdeletion syndrome is a recently described syndrome characterized by Wolff-Parkinson-White syndrome (see this term), variable developmental delay and facial dysmorphism.

20P12.3 MICRODELETION SYNDROME Is also known as del(20)(p12.3)|monosomy 20p12.3

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Hypertelorism
  • Muscular hypotonia


SOURCES: ORPHANET MENDELIAN

More info about 20P12.3 MICRODELETION SYNDROME

MRXSB is an X-linked dominant neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability with behavioral abnormalities, and dysmorphic facial features. Additional variable features include musculoskeletal abnormalities, seizures, acquired microcephaly, and feeding problems with poor overall growth. Only females are affected (summary by Bain et al., 2016).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE; MRXSB

Brittle cornea syndrome (BCS) is characterized by blue sclerae, corneal rupture after minor trauma, keratoconus or keratoglobus, hyperelasticity of the skin, and hypermobility of the joints (Al-Hussain et al., 2004). It is classified as a form of Ehlers-Danlos syndrome (Malfait et al., 2017). Genetic Heterogeneity of Brittle Cornea SyndromeBrittle cornea syndrome-2 (BCS2 ) is caused by mutation in the PRDM5 gene (OMIM ) on chromosome 4q27.

BRITTLE CORNEA SYNDROME 1; BCS1 Is also known as ehlers-danlos syndrome, type vib, formerly|dysgenesis mesodermalis corneae et sclerae|corneal fragility, keratoglobus, blue sclerae, joint hyperextensibility|eds6b, formerly|fragilitas oculi with joint hyperextensibility

Related symptoms:

  • Hearing impairment
  • Scoliosis
  • Epicanthus
  • Myopia
  • Macrocephaly


SOURCES: OMIM MENDELIAN

More info about BRITTLE CORNEA SYNDROME 1; BCS1

Other less relevant matches:

Penoscrotal transposition (PST) is a rare congenital genital anomaly in which the scrotum is positioned superior and anterior to the penis. PST may present with a broad spectrum of anomalies ranging from simple shawl scrotum (doughnut scrotum) to very complex extreme transposition with craniofacial, central nervous system, cardiac, gastrointestinal, urological, and other genital (undescended testicles, hypospadias, chordee) malformations. Growth deficiency and intellectual disability may also be noticed (60% of cases).

PENOSCROTAL TRANSPOSITION Is also known as dihydrotestosterone receptor deficiency|testicular feminization syndrome|androgen receptor deficiency|dhtr deficiency|ar deficiency|tfm

Related symptoms:

  • Intellectual disability
  • Neoplasm
  • Micrognathia
  • Cryptorchidism
  • Epicanthus


SOURCES: OMIM ORPHANET MENDELIAN

More info about PENOSCROTAL TRANSPOSITION

NEUROFIBROMATOSIS-NOONAN SYNDROME; NFNS Is also known as neurofibromatosis with noonan phenotype|noonan-neurofibromatosis syndrome

Related symptoms:

  • Global developmental delay
  • Short stature
  • Scoliosis
  • Hypertelorism
  • Muscle weakness


SOURCES: ORPHANET OMIM MENDELIAN

More info about NEUROFIBROMATOSIS-NOONAN SYNDROME; NFNS

Lamb-Shaffer syndrome is a neurodevelopmental disorder characterized by global developmental delay, intellectual disability, poor expressive speech, and mild dysmorphic facial features. Additional variable skeletal abnormalities may also be present (summary by Nesbitt et al., 2015).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis


SOURCES: OMIM MENDELIAN

More info about LAMB-SHAFFER SYNDROME; LAMSHF

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

Medium match SILLENCE SYNDROME

Sillence syndrome (brachydactyly-symphalangism syndrome) resembles type A1 brachydactyly (variable shortening of the middle phalanges of all digits) with associated symphalangism (producing a distal phalanx with the shape of a chess pawn). Scoliosis, clubfoot and tall stature are also characteristic.

SILLENCE SYNDROME Is also known as synostoses, multiple, with brachydactyly|symphalangism-brachydactyly syndrome|wl syndrome|brachydactyly-symphalangism syndrome|facioaudiosymphalangism syndrome|deafness-symphalangism syndrome of herrmann

Related symptoms:

  • Hearing impairment
  • Scoliosis
  • Strabismus
  • Epicanthus
  • Brachydactyly


SOURCES: OMIM ORPHANET MENDELIAN

More info about SILLENCE SYNDROME

Malignant hyperthermia susceptibility (MHS), a skeletal muscle disorder most often inherited as an autosomal dominant trait, is one of the main causes of death due to anesthesia. In susceptible people, a malignant hyperthermia episode is triggered by exposure to commonly used volatile anesthetic agents such as halothane or depolarizing muscle relaxants such as succinyl choline. A fulminant MH crisis is characterized by any combination of hyperthermia, skeletal muscle rigidity, tachycardia or arrhythmia, respiratory and metabolic acidosis, and rhabdomyolysis. Except for this susceptibility to triggering agents, MHS patients are not clinically distinguishable from the general population (summary by Monnier et al., 1997). Genetic Heterogeneity of Susceptibility to Malignant HyperthermiaOther MHS loci include MHS2 (OMIM ) on chromosome 17q; MHS3 (OMIM ) on chromosome 7q; MHS4 (OMIM ) on chromosome 3q; MHS5 (OMIM ), caused by mutation in the CACNA1S gene (OMIM ) on chromosome 1q32; and MHS6 (OMIM ) on chromosome 5p.

MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1; MHS1 Is also known as mhs|hyperthermia of anesthesia|mh|hyperpyrexia, malignant

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Generalized hypotonia
  • Scoliosis


SOURCES: OMIM MENDELIAN

More info about MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1; MHS1

MPSPS is an autosomal recessive inborn error of metabolism resulting in a multisystem disorder with features of the mucopolysaccharidosis lysosomal storage diseases (see, e.g., {607016}). Patients present in infancy or early childhood with respiratory difficulties, cardiac problems, anemia, dysostosis multiplex, renal involvement, coarse facies, and delayed psychomotor development. Most patients die of cardiorespiratory failure in the first years of life (summary by Kondo et al., 2017).

MUCOPOLYSACCHARIDOSIS-LIKE SYNDROME WITH CONGENITAL HEART DEFECTS AND HEMATOPOIETIC DISORDERS Is also known as mucopolysaccharidosis-like plus disease

Related symptoms:

  • Global developmental delay
  • Abnormal facial shape
  • Spasticity
  • Anemia
  • Flexion contracture


SOURCES: OMIM ORPHANET MENDELIAN

More info about MUCOPOLYSACCHARIDOSIS-LIKE SYNDROME WITH CONGENITAL HEART DEFECTS AND HEMATOPOIETIC DISORDERS

Top 5 symptoms//phenotypes associated to Epicanthus and Pectus carinatum

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Scoliosis Common - Between 50% and 80% cases
Hypertelorism Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Downslanted palpebral fissures Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Seizures Low-set ears Abnormal facial shape Hyperlordosis Cryptorchidism Pectus excavatum Wide nasal bridge Short stature Malar flattening Thin upper lip vermilion Frontal bossing Hernia High palate Ptosis Lumbar hyperlordosis Depressed nasal bridge Strabismus Generalized hypotonia Macrocephaly Posteriorly rotated ears Atrial septal defect Telecanthus

Rare Symptoms - Less than 30% cases

Hearing impairment Wide nose Abnormality of the skeletal system Cubitus valgus Short philtrum Thick vermilion border Underdeveloped nasal alae Stereotypy Optic atrophy Myopia Disproportionate tall stature Ambiguous genitalia Renal agenesis Clinodactyly Joint hypermobility Cardiomyopathy Wide intermamillary distance Hypospadias Kyphoscoliosis Patent ductus arteriosus Joint laxity Short neck Spasticity Pes cavus Hypertonia Behavioral abnormality Prominent forehead Constipation Midface retrusion Webbed neck Broad thumb Delayed speech and language development Muscle weakness Abnormal heart morphology Flexion contracture Gastroesophageal reflux Pes planus Anxiety Micrognathia Large tarsal bones Lower limb undergrowth Progressive conductive hearing impairment Bulbous tips of toes Oval face Aplasia/Hypoplasia of the middle phalanges of the hand Broad metacarpals Aplasia of the middle phalanx of the hand Broad metatarsal Hypoplastic nasal septum Stapes ankylosis Proximal symphalangism Proximal symphalangism of hands Enlargement of the costochondral junction Cervical spinal canal stenosis Intervertebral disc degeneration Absent distal phalanges Large iliac wings Abnormality of the distal phalanx of finger Absent distal interphalangeal creases Distal symphalangism Short lower limbs Short middle phalanx of finger Aplastic/hypoplastic toenail Osteoma Waddling gait Short metacarpal Single transverse palmar crease Short foot Platyspondyly Camptodactyly Conductive hearing impairment Brachydactyly Posterior pharyngeal cleft Exstrophy Narrow face Recurrent aspiration pneumonia Bladder exstrophy Intestinal lymphangiectasia Abnormality of the nasopharynx Right aortic arch Chylothorax Abnormality of the pharynx Volvulus Pulmonary artery atresia Abnormal vertebral morphology Abnormality of the nail Short upper lip Short humerus Short sternum Slender build Short 1st metacarpal Thick upper lip vermilion Flat acetabular roof Short hallux Carpal synostosis Ankylosis Spinal canal stenosis Dislocated radial head Abnormal dermatoglyphics Cutaneous finger syndactyly Tarsal synostosis Short finger Anonychia Metatarsus adductus 2-3 toe syndactyly Hypoplastic spinal processes Radial deviation of finger Back pain Chess-pawn distal phalanges Metabolic acidosis Fusion of midphalangeal joints Skeletal dysplasia Abnormality of the foot Synophrys Hip dislocation Abnormal pyramidal sign Respiratory tract infection Hypertrophic cardiomyopathy Proteinuria Hepatosplenomegaly Coarse facial features Recurrent respiratory infections Hepatic steatosis Thrombocytopenia Splenomegaly Respiratory distress Hyperreflexia Hepatomegaly Anemia Mixed respiratory and metabolic acidosis Sinus tachycardia Long upper lip Hirsutism Macroglossia Diaphragmatic eventration Barrel-shaped chest Obstructive lung disease J-shaped sella turcica Macrovesicular hepatic steatosis Acetabular dysplasia Flared iliac wings Large forehead Beaking of vertebral bodies Dysostosis multiplex Tubular atrophy Focal segmental glomerulosclerosis Brain atrophy Glomerulosclerosis Coarse hair Bone marrow hypocellularity Joint contracture of the hand Thickened skin Long eyelashes Abnormal lung morphology Cerebral calcification Delayed myelination Congenital ptosis Respiratory arrest Abnormality of the proximal phalanges of the hand Rigidity Hydrocele testis Tachycardia Lactic acidosis Limb muscle weakness Arthrogryposis multiplex congenita Muscular dystrophy Stroke Myalgia Proximal muscle weakness Acidosis Abnormal bleeding Hyperhidrosis Elevated serum creatine phosphokinase Arrhythmia Dilatation Renal insufficiency Kyphosis Myopathy Fever Abnormality of the proximal phalanx of the hallux Muscle cramps Hypotension Severe lactic acidosis Abnormality of the sternum Breech presentation Hyperphosphatemia Low hanging columella Thoracic kyphosis Malignant hyperthermia Myoglobinuria Scaphocephaly Acute kidney injury Rhabdomyolysis Hyperkalemia Decreased fetal movement Myopathic facies Abnormality of the coagulation cascade Ventricular fibrillation Myotonia Deep philtrum Ventricular arrhythmia Tachypnea Shock Lymphedema Widow's peak Severe expressive language delay Bilateral cleft lip and palate Hyperextensibility of the finger joints Neoplasm Decreased corneal thickness Molluscoid pseudotumors Keratoglobus Palmoplantar cutis laxa Talipes valgus Red hair Dentinogenesis imperfecta Inguinal hernia Buphthalmos Spondylolisthesis Atypical scarring of skin Soft skin Megalocornea Keratoconus Hallux valgus Increased susceptibility to fractures Obesity Clinodactyly of the 5th finger Reduced bone mineral density Prominent occiput Patellar aplasia Elevated circulating follicle stimulating hormone level Labial hypoplasia Sparse pubic hair Sparse axillary hair Male pseudohermaphroditism Shawl scrotum Abnormality of the ureter Diabetes insipidus Cerebral cortical atrophy Bifid scrotum Growth abnormality Bilateral single transverse palmar creases Gynecomastia Renal dysplasia Abnormality of the genital system Primary amenorrhea Micropenis Hyperextensible skin Congenital hip dislocation Aplasia of the uterus Thickened helices Hyperactivity Absent speech Gait disturbance Feeding difficulties Failure to thrive Ataxia Microcephaly Wolff-Parkinson-White syndrome Autism Broad hallux phalanx Full cheeks Hypoplasia of the maxilla Microtia Narrow mouth Long philtrum Ventriculomegaly Muscular hypotonia Gait ataxia Aggressive behavior Blue sclerae Obsessive-compulsive behavior High myopia Mitral valve prolapse Retinal detachment Talipes Scarring Glaucoma Visual loss Abnormality of the dentition Self-injurious behavior Developmental regression Postnatal microcephaly Thick lower lip vermilion Short palpebral fissure Hypotelorism Abnormal cerebellum morphology Attention deficit hyperactivity disorder Wide mouth Autistic behavior Menstrual irregularities Elevated circulating luteinizing hormone level Aspiration pneumonia Ureteral stenosis Ventricular septal defect Dysphagia Cleft palate Sensorineural hearing impairment Laryngotracheomalacia Hypoplastic helices Mild myopia Expressive language delay Respiratory insufficiency Thoracic kyphoscoliosis Vertebral clefting Hyperplasia of the maxilla Long hallux Small face Maternal diabetes Long fingers Overlapping toe Anteverted nares Syndactyly Narrow palate Congenital diaphragmatic hernia Bilateral cleft lip Double outlet right ventricle Prominent metopic ridge Increased number of teeth Abnormality of the voice Aspiration Large fontanelles Recurrent urinary tract infections Intestinal malrotation Abnormality of cardiovascular system morphology Hypodontia Oral cleft Cleft upper lip Smooth philtrum Anal atresia Cleft lip Agenesis of corpus callosum Pneumonia Optic nerve hypoplasia Pointed chin Pseudohypoparathyroidism Penoscrotal transposition Cafe-au-lait spot Low posterior hairline Specific learning disability Pulmonic stenosis Leukemia Scrotal hypospadias Incomplete male pseudohermaphroditism Blind vagina Neurofibromas Absent facial hair Female external genitalia in individual with 46,XY karyotype Abnormal external genitalia Penoscrotal hypospadias Abnormality of the urethra Nephrogenic diabetes insipidus Dimple chin Perineal hypospadias Relative macrocephaly Freckling Exotropia Inguinal freckling Dental crowding Clumsiness Mitral regurgitation Open mouth Bulbous nose Facial asymmetry Retrognathia High forehead Pectus excavatum of inferior sternum Multiple cafe-au-lait spots Optic nerve glioma Prominent nasolabial fold Superior pectus carinatum Axillary freckling Lisch nodules Secundum atrial septal defect Broad neck Acute lymphoblastic leukemia Hypoplastic acetabulae


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