Flexion contracture, and Microtia

Diseases related with Flexion contracture and Microtia

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

Top matches:

Epidermolysis bullosa simplex with pyloric atresia (EBS-PA) is a basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by generalized severe blistering with widespread congenital absence of skin and pyloric atresia.

EPIDERMOLYSIS BULLOSA SIMPLEX WITH PYLORIC ATRESIA Is also known as ebs with pyloric atresia|ebs-pa

Related symptoms:

  • Failure to thrive
  • Anemia
  • Flexion contracture
  • Dysphagia
  • Short nose


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about EPIDERMOLYSIS BULLOSA SIMPLEX WITH PYLORIC ATRESIA

Related symptoms:

  • Microcephaly
  • Growth delay
  • Failure to thrive
  • Micrognathia
  • Feeding difficulties


SOURCES: OMIM MENDELIAN

More info about MEIER-GORLIN SYNDROME 2; MGORS2

Hennekam lymphangiectasia-lymphedema syndrome is an autosomal recessive disorder characterized by generalized lymphatic dysplasia affecting various organs, including the intestinal tract, pericardium, and limbs. Additional features of the disorder include facial dysmorphism and cognitive impairment (summary by Alders et al., 2014).For a discussion of genetic heterogeneity of Hennekam lymphangiectasia-lymphedema syndrome, see HKLLS1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Microcephaly
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 2; HKLLS2

Other less relevant matches:

Ayme-Gripp syndrome is a clinically homogeneous phenotype characterized by congenital cataracts, sensorineural hearing loss, intellectual disability, seizures, brachycephaly, a distinctive flat facial appearance, and reduced growth (Niceta et al., 2015).

AYME-GRIPP SYNDROME; AYGRP Is also known as cataracts, congenital, with sensorineural deafness, down syndrome-like facial appearance, short stature, and mental retardation

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about AYME-GRIPP SYNDROME; AYGRP

MRD57 is an autosomal dominant neurodevelopmental disorder with a highly variable phenotype. Most affected individuals have delayed psychomotor development apparent in infancy or early childhood, language delay, and behavioral abnormalities. Additional features may include hypotonia, feeding problems, gastrointestinal issues, and dysmorphic facial features (summary by Reijnders et al., 2018).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 57; MRD57

This syndrome is characterized by the association of dilated cardiomyopathy and hypergonadotropic hypogonadism (DCM-HH).

DILATED CARDIOMYOPATHY-HYPERGONADOTROPIC HYPOGONADISM SYNDROME Is also known as cardiomyopathy, dilated, with premature ovarian failure|genital anomaly with cardiomyopathy|najjar syndrome|cardiomyopathy, congestive, with hypergonadotropic hypogonadism|cardiogenital syndrome|cardiomyopathy with primary testicular failure|malouf syndro

Related symptoms:

  • Intellectual disability
  • Short stature
  • Scoliosis
  • Cryptorchidism
  • Ptosis


SOURCES: OMIM ORPHANET MENDELIAN

More info about DILATED CARDIOMYOPATHY-HYPERGONADOTROPIC HYPOGONADISM SYNDROME

Scalp-ear-nipple syndrome is characterised by the following triad: areas of hairless raw skin over the scalp (present at birth and healing during childhood), prominent, hypoplastic ears with almost absent pinnae, and bilateral amastia. Thirty cases have been described so far. Renal and urinary tract abnormalities, as well as cataract, have also been observed. Transmission is autosomal dominant.

SCALP-EAR-NIPPLE SYNDROME Is also known as finlay-marks syndrome|sen syndrome

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Abnormal facial shape
  • Cataract
  • Low-set ears


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about SCALP-EAR-NIPPLE SYNDROME

Ablepharon macrostomia syndrome is an extremely rare multiple congenital malformation syndrome characterized by the association of ablepharon, macrostomia, abnormal external ears, syndactyly of the hands and feet, skin findings (such as dry and coarse skin or redundant folds of skin), absent or sparse hair, genital malformations and developmental delay (in 2/3 of cases). Other reported manifestations include malar hypoplasia, absent or hypoplastic nipples, umbilical abnormalities and growth retardation. It is a mainly sporadic disorder, although a few familial cases having been reported, and it displays significant clinical overlap with Fraser syndrome (see this term).

Related symptoms:

  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Growth delay
  • Hypertelorism


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about ABLEPHARON MACROSTOMIA SYNDROME

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


SOURCES: OMIM MESH MENDELIAN

More info about ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE

Walker-Warburg Syndrome (WWS) is a rare form of congenital muscular dystrophy associated with brain and eye abnormalities.

WALKER-WARBURG SYNDROME Is also known as hard syndrome|cerebroocular dysplasia-muscular dystrophy syndrome|hydrocephalus, agyria, and retinal dysplasia|walker-warburg syndrome or muscle-eye-brain disease, pomt1-related|wws|hydrocephalus-agyria-retinal dysplasia syndrome|cod-md syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about WALKER-WARBURG SYNDROME

Top 5 symptoms//phenotypes associated to Flexion contracture and Microtia

Symptoms // Phenotype % cases
Camptodactyly Common - Between 50% and 80% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Microcephaly Uncommon - Between 30% and 50% cases
Narrow mouth Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Flexion contracture and Microtia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Hypertelorism Abnormal facial shape Short stature Myopia Seizures Hearing impairment Depressed nasal bridge Epicanthus Syndactyly Low-set ears Growth delay Feeding difficulties Congenital cataract Nail dystrophy Intellectual disability, mild Blepharophimosis Posteriorly rotated ears Generalized hypotonia Abnormality of the dentition Wide nasal bridge Abnormality of the pinna Ptosis Cataract Failure to thrive Fine hair Atresia of the external auditory canal Short nose Sparse hair Underdeveloped nasal alae

Rare Symptoms - Less than 30% cases

2-3 toe syndactyly Agenesis of permanent teeth Hypoplastic nipples Absent eyelashes Thin upper lip vermilion Aplasia/Hypoplasia of the nipples Absent nipple Mandibular prognathia Upslanted palpebral fissure Conical tooth Hypoplasia of penis Midface retrusion Malar flattening Microdontia Ectodermal dysplasia Brachydactyly Hypoplasia of the maxilla Toe syndactyly Cutaneous syndactyly Cleft palate Hypohidrosis Cryptorchidism Cleft lip Oral cleft Protruding ear Cleft upper lip Coloboma Short chin Finger syndactyly Abnormality of the skin Micropenis Hoarse voice Anteverted nares Recurrent otitis media Hypertrichosis Otitis media Abnormality of the skeletal system Dry skin Delayed speech and language development Scoliosis Iris coloboma Shallow orbits Thin vermilion border Abnormality of the genital system Telecanthus Corneal opacity Osteoporosis Smooth philtrum Talipes equinovarus Joint hypermobility Intrauterine growth retardation Micrognathia Skin erosion Labial hypoplasia Breast hypoplasia Abnormality of the outer ear Renal dysplasia Sepsis Intellectual disability, severe Aplasia cutis congenita Flat face Hydronephrosis Omphalocele Patent ductus arteriosus Aplasia/Hypoplasia involving the skeletal musculature Abnormality of the nervous system Conductive hearing impairment Hyperkeratosis Alopecia Ventricular septal defect Hypospadias Scarring Hypoplastic male external genitalia Pain Short metacarpal Long uvula Agyria Excessive daytime sleepiness Abnormality of skin pigmentation Cerebellar cyst Hypotrichosis Hyperpigmentation of the skin Brittle hair Widely spaced teeth Sparse eyelashes Conjunctivitis Increased body weight Sinusitis Choanal atresia Posterior fossa cyst Split hand Inflammatory abnormality of the skin Thick cerebral cortex Small nail Hypodontia Palmoplantar keratoderma Type II lissencephaly Remnants of the hyaloid vascular system Dental malocclusion Meningoencephalocele Absent eyebrow Abnormality of finger Interphalangeal joint contracture of finger Hypoplasia of the zygomatic bone Abnormality of the mouth Metatarsus valgus Severe hydrocephalus Ectropion Ambiguous genitalia Sparse eyebrow Redundant skin Macrogyria Abnormal lactate dehydrogenase activity Thin skin Sacral dimple Corneal erosion Abnormal hair pattern Cutis laxa Hammertoe Ventral hernia Absent hair Microtia, third degree Ablepharon Cryptophthalmos Abnormality of female external genitalia Short upper lip Abnormality of the cerebellar vermis Hypoglycosylation of alpha-dystroglycan Abnormal nasal morphology Overbite Excessive wrinkled skin High-frequency hearing impairment Chorioretinal dysplasia Abnormal levels of creatine kinase in blood Erythroderma Heterotopia Anhidrosis Megalocornea Polymicrogyria Anal atresia Abnormality of the cerebral white matter Retinal atrophy Muscular dystrophy Retinopathy Proptosis Glaucoma Retinal detachment Agenesis of corpus callosum Bilateral cleft lip Retinal dysplasia Cerebellar hypoplasia Elevated serum creatine phosphokinase Hyporeflexia Areflexia Dilatation Retinal dystrophy Microcornea Myopathy Hypoplasia of the brainstem Lissencephaly Optic nerve hypoplasia Congenital contracture Congenital muscular dystrophy Pachygyria Anophthalmia Encephalocele Cerebellar vermis hypoplasia Bifid uvula Abnormality of neuronal migration Congenital glaucoma Intellectual disability, profound Specific learning disability Absent septum pellucidum Occipital encephalocele Submucous cleft hard palate Dandy-Walker malformation Microphthalmia Camptodactyly of finger Anonychia Trismus Hyperconvex nail Ankyloblepharon Orthokeratosis Plantar hyperkeratosis Selective tooth agenesis Pili torti Heat intolerance Chronic sinusitis Patchy alopecia Blepharitis Pustule Muscle fiber splitting Ectrodactyly Keratoconjunctivitis sicca Severe muscular hypotonia Supernumerary nipple Cerebellar dysplasia Oval face Lacrimal duct atresia Blindness Aqueductal stenosis Hydrocephalus Hypoplasia of the corpus callosum Ventriculomegaly Frontal bossing Optic atrophy Abnormal cortical gyration Abnormality of the optic nerve Buphthalmos Macrocephaly Bilateral choanal atresia Skeletal muscle atrophy Muscular hypotonia Muscle weakness Otitis externa Vaginal dryness Peters anomaly Fibrous syngnathia 3-4 toe syndactyly Sparse body hair Hypotelorism Wide mouth Delayed cranial suture closure High palate Strabismus Craniofacial asymmetry Broad eyebrow Broad philtrum Arnold-Chiari type I malformation Pericarditis Mild short stature Kyphosis Radioulnar synostosis Tented upper lip vermilion Sparse scalp hair Tapered finger High forehead Brachycephaly Cerebral atrophy Long philtrum Diarrhea Constipation Sensorineural hearing impairment Pointed chin Arrhythmia Congestive heart failure Cardiomyopathy Tall chin Microtia, first degree Hyperventilation Toe walking Obsessive-compulsive behavior Broad nasal tip Hyperactivity Long face Prominent nasal bridge Attention deficit hyperactivity disorder Craniosynostosis Autistic behavior Anxiety Pes planus Autism Downslanted palpebral fissures Pericardial lymphangiectasia Osteopenia Skin vesicle Delayed skeletal maturation Congenital pyloric atresia Aplasia of the bladder Abnormality of the stomach Ureterocele Oral mucosal blisters Fragile skin Glomerulosclerosis Postnatal growth retardation Dehydration Abnormal blistering of the skin Premature birth Limitation of joint mobility Deeply set eye Polyhydramnios Respiratory failure Dysphagia Gastroesophageal reflux Dolichocephaly Pulmonary lymphangiectasia Cognitive impairment Irregular dentition Erysipelas Intestinal lymphangiectasia Hypoproteinemia Lymphopenia Lymphedema Decreased antibody level in blood Edema Birth length less than 3rd percentile Clitoral hypertrophy Bronchomalacia Aplasia/Hypoplasia of the patella Patellar aplasia Hypoplastic labia majora Tracheomalacia Slender long bone High pitched voice Emphysema Hypogonadism Retrognathia Umbilical hernia Abnormality of the hair Cupped ear Abnormality of the thorax Abnormality of the urinary system Abnormality of the fingernails Narrow palpebral fissure Type I diabetes mellitus Abnormality of the nail Recurrent urinary tract infections Narrow nasal bridge Renal hypoplasia Anemia Renal agenesis Nail dysplasia Vesicoureteral reflux Delayed eruption of teeth Abnormality of the kidney Hyperhidrosis Multiple lipomas Palpebral edema Hypertension Hypoplastic helices Hernia Visual impairment Duplication of renal pelvis Abnormality of the scalp Underdeveloped antitragus 3-4 finger cutaneous syndactyly Underdeveloped tragus Bilateral camptodactyly Bilateral renal hypoplasia Short columella Breast aplasia Small earlobe Aplasia cutis congenita of scalp Pyelonephritis Ureteral duplication Abnormality of the endocrine system Eyelid coloboma Abnormality of the antihelix Renal insufficiency Aplasia of the phalanges of the 3rd toe Dilated cardiomyopathy Mitral regurgitation Precocious puberty Lipodystrophy Polycystic ovaries Ventricular tachycardia Spontaneous abortion Hypergonadotropic hypogonadism Increased bone mineral density Telangiectasia Atrial fibrillation Premature ovarian insufficiency Cardiomegaly Amenorrhea Convex nasal ridge Full cheeks Wide nose Tachycardia Arachnodactyly Delayed puberty Bilateral ptosis Tricuspid regurgitation Thyroid hemiagenesis Abnormality of the ovary Myofiber disarray Puberty and gonadal disorders Primary testicular failure Sclerodactyly Testicular dysgenesis Wide nasal base Poor wound healing Elevated circulating luteinizing hormone level Elevated circulating follicle stimulating hormone level Bilateral cryptorchidism Sparse pubic hair Abnormality of the testis Poikiloderma Down-sloping shoulders Short clavicles Thoracic scoliosis Secondary amenorrhea Scleroderma Abnormal aldolase level


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