Flexion contracture, and Anal atresia

Diseases related with Flexion contracture and Anal atresia

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

Top matches:

Right atrial isomerism is a severe complex congenital heart defect resulting from embryonic disruption of proper left-right axis determination. RAI is usually characterized by complete atrioventricular septal defect with a common atrium and univentricular AV connection, total anomalous pulmonary drainage, and transposition or malposition of the great arteries. Affected individuals present at birth with severe cardiac failure. Other associated abnormalities include bilateral trilobed lungs, midline liver, and asplenia, as well as situs inversus affecting other organs. Left atrial isomerism (LAI) is a related disorder with a somewhat better prognosis. LAI is characterized by bilateral superior vena cava, interruption of the intrahepatic portion of the inferior vena cava, partial anomalous pulmonary venous drainage, and ventricular septal defect. Patients with LAI may have polysplenia and bilateral bilobed lungs, as well as situs inversus affecting other organs. Both RAI and LAI malformation complexes have classically been referred to as Ivemark syndrome (summary by Eronen et al., 2004 and Kaasinen et al., 2010).

IVEMARK SYNDROME Is also known as ivemark syndrome|asplenia with cardiovascular anomalies|right isomerism

Related symptoms:

  • Growth delay
  • Hypertelorism
  • Low-set ears
  • Flexion contracture
  • Intrauterine growth retardation


SOURCES: OMIM ORPHANET MENDELIAN

More info about IVEMARK SYNDROME

Congenital heart defects and skeletal malformations syndrome (CHDSKM) is characterized by atrial and ventricular septal defects, with aortic root dilation in adulthood. Skeletal defects are variable and include pectus excavatum, scoliosis, and finger contractures, and some patient exhibit joint laxity. Failure to thrive is observed during infancy and early childhood (Wang et al., 2017).

Related symptoms:

  • Scoliosis
  • Failure to thrive
  • Abnormal facial shape
  • Flexion contracture
  • Intrauterine growth retardation


SOURCES: OMIM MENDELIAN

More info about CONGENITAL HEART DEFECTS AND SKELETAL MALFORMATIONS SYNDROME; CHDSKM

Low match ADULT SYNDROME

ADULT (Acro-dermo-ungual-lacrimal-tooth) syndrome is a rare ectodermal dysplasia syndrome (see this term) characterized by ectrodactyly, syndactyly, mammary hypoplasia, and excessive freckling as well as other typical ectodermal defects such as hypodontia, lacrimal duct anomalies, hypotrichosis, and onychodysplasia.

ADULT SYNDROME Is also known as acrodermatounguallacrimaltooth syndrome|pigment anomaly-ectrodactyly-hypodontia syndrome|acro-dermato-ungual-lacrimal-tooth syndrome

Related symptoms:

  • Brachydactyly
  • Wide nasal bridge
  • Abnormality of the dentition
  • Syndactyly
  • Midface retrusion


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about ADULT SYNDROME

Other less relevant matches:

THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by global development delay, microcephaly, moderate to severe intellectual disability and facial dysmorphism which includes tall forehead, high anterior hairline, short upslanting palpebral fissures, deep-set eyes and a long nose with a low-hanging columella. Additionally, congenital renal and cardiac malformations (such as horseshoe kidney, unilateral renal agenesis atrioventricular septal defects, patent ductus arteriosus), as well as corpus callosum dysplasia, may be associated.

THOC6-RELATED DEVELOPMENTAL DELAY-MICROCEPHALY-FACIAL DYSMORPHISM SYNDROME Is also known as microcephaly, mental retardation, and distinctive facies, with cardiac and genitourinary malformations|beaulieu-boycott-innes syndrome|bbis

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Abnormal facial shape


SOURCES: ORPHANET OMIM MENDELIAN

More info about THOC6-RELATED DEVELOPMENTAL DELAY-MICROCEPHALY-FACIAL DYSMORPHISM SYNDROME

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

Cerebrofacioarticular syndrome is a rare multiple congenital anomalies syndrome characterized by mild to severe intellectual disability, a distinctive facial gestalt (blepharophimosis, maxillary hypoplasia, telecanthus, microtia and atresia of the external auditory meatus) as well as skeletal and articular abnormalities (e.g. camptodactyly of the fingers, cutaneous syndactyly, talipes equinovarus, flexion contractures of the proximal interphalangeal joints, hip or elbow subluxation, joint laxity). Affected individuals also present neonatal hypotonia, variable respiratory manifestations, chronic feeding difficulties and gray matter heterotopia.

CEREBROFACIOARTICULAR SYNDROME Is also known as cerebrofacioarticular syndrome|van maldergem syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis


SOURCES: OMIM ORPHANET MENDELIAN

More info about CEREBROFACIOARTICULAR SYNDROME

Ulnar-mammary syndrome (UMS) is a rare developmental disorder characterized by ulnar defects, mammary and apocrine gland hypoplasia and genital anomalies. Delayed puberty dental anomalies, short stature and obesity have also been described.

ULNAR-MAMMARY SYNDROME Is also known as schinzel syndrome|ums|pallister ulnar-mammary syndrome

Related symptoms:

  • Short stature
  • Growth delay
  • Hypertelorism
  • Cryptorchidism
  • Ptosis


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about ULNAR-MAMMARY SYNDROME

Schinzel phocomelia syndrome, also called limb/pelvis hypoplasia/aplasia syndrome, is characterized by skeletal malformations affecting the ulnae, pelvic bones, fibulae and femora. As the phenotype is similar to that described in the malformation syndrome known as Al-Awadi/Raas-Rothschild syndrome, they are thought to be the same disorder.

PHOCOMELIA, SCHINZEL TYPE Is also known as al-awadi/raas-rothschild syndrome|aarrs|lphas|congenital absence of ulna and fibula|aplasia/hypoplasia of limbs and pelvis|al awadi-raas-rothschild syndrome|severe limb deficit|limb/pelvis-hypoplasia/aplasia syndrome|schinzel phocomelia syndrome

Related symptoms:

  • Micrognathia
  • Abnormal facial shape
  • Cleft palate
  • Cryptorchidism
  • Low-set ears


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about PHOCOMELIA, SCHINZEL TYPE

Oral-facial-digital syndrome, type 4 is characterized by lingual hamartoma, postaxial polysyndactyly of hands and feet, and mesomelic shortening of the legs with supinate equinovarus feet.

OROFACIODIGITAL SYNDROME TYPE 4 Is also known as oral-facial-digital syndrome, type iv|ofd syndrome with tibial defects|ofd syndrome, baraitser-burn type|mohr-majewski syndrome|ofds iv|oral-facial-digital syndrome type 4|ofd4|baraitser-burn syndrome

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about OROFACIODIGITAL SYNDROME TYPE 4

Benign chronic familial pemphigus of Hailey-Hailey is characterized by rhagades mostly located in the armpits, inguinal and perineal folds (scrotum, vulva).

FAMILIAL BENIGN CHRONIC PEMPHIGUS Is also known as poikiloderma atrophicans and cataract|hailey-hailey disease|benign chronic familial pemphigus of hailey-hailey

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about FAMILIAL BENIGN CHRONIC PEMPHIGUS

Top 5 symptoms//phenotypes associated to Flexion contracture and Anal atresia

Symptoms // Phenotype % cases
Growth delay Common - Between 50% and 80% cases
Camptodactyly Uncommon - Between 30% and 50% cases
Intrauterine growth retardation Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Hypertelorism Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Cryptorchidism Cleft palate Abnormality of the dentition Short nose Abnormality of the skeletal system Abnormal facial shape Skeletal dysplasia Epicanthus Talipes equinovarus Split hand Low-set ears Micrognathia Ventricular septal defect Hearing impairment Microcephaly Abnormal heart morphology Hypoplasia of penis Atrial septal defect Short stature Clinodactyly Wide nasal bridge Short palpebral fissure Polydactyly Agenesis of corpus callosum Hypodontia Abnormal cardiac septum morphology Global developmental delay Ambiguous genitalia Encephalocele Hypoplastic nipples Feeding difficulties Microtia Oral cleft High palate

Rare Symptoms - Less than 30% cases

Hip dislocation Cleft lip Proptosis Renal hypoplasia Choanal atresia Breast hypoplasia Sparse axillary hair Flat face Protruding ear Ectrodactyly Corneal opacity Anteriorly placed anus Dermal atrophy Anal stenosis Talipes Retrognathia Micromelia Posteriorly rotated ears Hypoplasia of the corpus callosum Frontal bossing Cataract Bowing of the long bones Generalized hypotonia Seizures Sensorineural hearing impairment Ptosis Perimembranous ventricular septal defect Hypospadias Renal cyst Glaucoma Unilateral renal agenesis Conductive hearing impairment Short foot Renal agenesis Dental malocclusion Blepharophimosis Rectovaginal fistula Upslanted palpebral fissure Telecanthus High, narrow palate Myopia Short clavicles Nail dysplasia Microphthalmia Interphalangeal joint contracture of finger Abnormality of the genital system Thin skin Specific learning disability Growth hormone deficiency Carious teeth Broad forehead Joint laxity Deeply set eye Pectus excavatum Failure to thrive Scoliosis Postaxial hand polydactyly Hypoplasia of the radius Pointed chin Laryngomalacia Pyloric stenosis Hand polydactyly Hypoplastic toenails Pachygyria Heterotopia Renal dysplasia Oligodactyly Absent radius Submucous cleft hard palate Atresia of the external auditory canal Occipital encephalocele Abnormality of cardiovascular system morphology Wide nose Postaxial polydactyly Finger clinodactyly Micropenis Aplasia of the ulna Toe syndactyly Cutaneous photosensitivity Nail dystrophy Finger syndactyly Microdontia Alopecia Hyperhidrosis Midface retrusion Microcornea Bifid uvula Long nose Mandibular prognathia Hernia Pectus carinatum Camptodactyly of finger Brachydactyly Broad clavicles Disproportionate short stature Broad neck Abnormality of tibia morphology Femoral bowing Broad ribs Hypoplastic pelvis Fibular aplasia Meningocele Humeroradial synostosis Aplasia/Hypoplasia involving the metacarpal bones Elbow ankylosis Anonychia Phocomelia Radial bowing Foot oligodactyly Calvarial skull defect Single umbilical artery Long ear Prominent sternum Barrel-shaped chest Aplasia of the uterus Hand oligodactyly Unilateral oligodactyly Tracheoesophageal fistula Gastroschisis Ectopic posterior pituitary Absent hand Abnormality of the radius Abnormality of temperature regulation Laryngeal stenosis Aplasia/Hypoplasia of the ulna Broad eyebrow Subglottic stenosis Breast aplasia Abnormal external genitalia Anterior pituitary hypoplasia Abnormality of the humerus Wide nasal base Gonadotropin deficiency Broad face Abnormality of the uterus Wolff-Parkinson-White syndrome Sparse lateral eyebrow Body odor Absent axillary hair Patent foramen ovale Macrotia Scrotal hypoplasia Narrow palate Hemivertebrae Elbow flexion contracture Hydrops fetalis Small nail Congenital diaphragmatic hernia Long face Short neck Hernia of the abdominal wall Decreased calvarial ossification Axillary apocrine gland hypoplasia Deformed radius Long uvula Short 5th toe Short 4th toe Imperforate hymen Aplasia of the pectoralis major muscle Laryngeal web Aplasia/hypoplasia of the femur Abnormality of eye movement Congenital pseudoarthrosis of the clavicle Vomiting Small hand Short palm Small for gestational age Skin rash Sparse hair Erythema Kyphoscoliosis Hyperkeratosis Hypogonadism Osteoporosis Diarrhea Hypertension Hypopigmentation of the skin Anemia Strabismus Neoplasm Absent crus of helix Monorchism Microtia, third degree Oral synechia Aplasia/Hypoplasia of the mandible Bilateral lung agenesis Rectal atresia Absent testis Cerebral cortical hemiatrophy Delayed eruption of teeth Telangiectasia Aplasia/Hypoplasia of the tibia Poikiloderma Zonular cataract Bilateral radial aplasia Juvenile cataract Annular pancreas Duodenal stenosis Iris atrophy Aplasia/Hypoplasia of the patella Skin erosion Acantholysis Patellar aplasia Concave nasal ridge Osteosarcoma Short thumb Proportionate short stature Aplasia/Hypoplasia of the thumb Increased number of teeth Skin vesicle Absent thumb Agenesis of permanent teeth Basal cell carcinoma Premature graying of hair Squamous cell carcinoma Sarcoma Neoplasm of the skin Congenital hip dislocation Perineal fistula Tongue nodules Hypoplastic sacrum Aplasia/Hypoplasia involving the carpal bones Ectopic anus Short philtrum Abnormality of the kidney Cerebral cortical atrophy Severe short stature Recurrent respiratory infections Cerebral atrophy Colonic stenosis Lower limb phocomelia Humeroulnar synostosis Aplasia/Hypoplasia of the tarsal bones Anteriorly displaced genitalia Decreased testicular size Aplastic pubic bones Aplasia/Hypoplasia of the pubic bone Pilonidal sinus Aplasia/Hypoplasia involving the pelvis Aplasia/Hypoplasia of the sacrum Rectal fistula Acrania Aplasia/Hypoplasia of metatarsal bones Aplasia/Hypoplasia of the phalanges of the toes Carpal bone aplasia Occipital meningocele Aplasia/Hypoplasia of the phalanges of the hand Pulmonary hypoplasia Limb undergrowth Hamartoma of tongue Primary adrenal insufficiency Lobulated tongue Abnormal oral frenulum morphology Abnormality of the gingiva Accessory oral frenulum Abnormal oral mucosa morphology Subcortical cerebral atrophy Porencephalic cyst Abnormality of the tongue Short tibia Median cleft lip Foot polydactyly Hamartoma Oligohydramnios Abnormal joint morphology Short finger Abnormality of the ear Mesomelia Preaxial hand polydactyly Genu varum Renal hypoplasia/aplasia Abnormality of the outer ear Joint dislocation Short ribs Hepatic fibrosis Depressed nasal ridge Supraventricular tachycardia Everted lower lip vermilion Abnormality of the wrist Nail pits Horseshoe kidney Recurrent urinary tract infections High forehead Patent ductus arteriosus Intellectual disability, mild Adermatoglyphia Premature loss of permanent teeth Conical incisor Lacrimal duct atresia Lacrimal duct stenosis Overlapping toe Fingernail dysplasia Toenail dysplasia Nasolacrimal duct obstruction Absent nipple Generalized hypopigmentation Fair hair Split foot Alopecia of scalp Freckling Premature ovarian insufficiency Low hanging columella Melanocytic nevus Ventriculomegaly Cerebellar hypoplasia Elevated serum creatine phosphokinase Hyporeflexia Areflexia Dilatation Myopathy Blindness Intellectual disability, severe Hydrocephalus Optic atrophy Mild microcephaly Macrocephaly Skeletal muscle atrophy Muscular hypotonia Muscle weakness Thin lower lip vermilion Muscular ventricular septal defect Left-to-right shunt Endometriosis Velopharyngeal insufficiency High anterior hairline Abnormality of dental morphology Oligodontia Coloboma Complete atrioventricular canal defect Bilateral trilobed lungs Left atrial isomerism Single ventricle Common atrium Biliary atresia Total anomalous pulmonary venous return Heterotaxy Abdominal situs inversus Anomalous pulmonary venous return Pulmonary artery atresia Constipation Asplenia Choanal stenosis Polysplenia Abnormal lung lobation Atrioventricular canal defect Dextrocardia Situs inversus totalis Pulmonic stenosis Congestive heart failure Right atrial isomerism Arachnodactyly Conjunctivitis Dry skin Abnormality of the nail Skin ulcer Abnormality of the face Inflammatory abnormality of the skin Sparse scalp hair Fine hair Eczema Wide intermamillary distance Ectodermal dysplasia Hypotrichosis Intestinal malrotation Prominent nasal bridge Clinodactyly of the 5th finger Syndactyly Narrow maxilla Soft skin Narrow nose Cutis marmorata Short chin Dental crowding Coarctation of aorta Hydronephrosis Retinopathy Hypoplastic scapulae Narrow forehead Genu recurvatum Tracheomalacia Cutaneous finger syndactyly Cortical gyral simplification Self-injurious behavior Tented upper lip vermilion Sacral dimple Wide anterior fontanel Large fontanelles Hypoplasia of the maxilla Wide cranial sutures Downturned corners of mouth Narrow chest Wide mouth Abnormality of the pinna Neonatal hypotonia Osteopenia Autism Malar flattening Abnormal aldolase level Short 4th metacarpal Irregular dentition Aplasia/Hypoplasia involving the skeletal musculature Hypoplasia of the ulna Abnormality of finger Abnormality of the clavicle Sprengel anomaly Inverted nipples Shawl scrotum Short humerus Hyperthyroidism Decreased fertility External genital hypoplasia Bifid scrotum Short fourth metatarsal Abnormality of the metacarpal bones Abnormality of the fingernails Convex nasal ridge Round face Short distal phalanx of finger Tachycardia Delayed puberty Inguinal hernia Arrhythmia Obesity Thick cerebral cortex Hypoplastic male external genitalia Muscular dystrophy Severe muscular hypotonia Absent septum pellucidum Congenital glaucoma Abnormality of neuronal migration Hypoplasia of the brainstem Anophthalmia Congenital muscular dystrophy Congenital contracture Optic nerve hypoplasia Lissencephaly Cerebellar vermis hypoplasia Megalocornea Intellectual disability, profound Dandy-Walker malformation Retinal detachment Retinal dystrophy Iris coloboma Polymicrogyria Cleft upper lip Congenital cataract Abnormality of the cerebral white matter Retinal atrophy Bilateral cleft lip Chorioretinal dysplasia Remnants of the hyaloid vascular system Abnormal lactate dehydrogenase activity Macrogyria Severe hydrocephalus Metatarsus valgus Abnormality of the cerebellar vermis Abnormal levels of creatine kinase in blood Hypoglycosylation of alpha-dystroglycan Meningoencephalocele Posterior fossa cyst Excessive daytime sleepiness Retinal dysplasia Agyria Cerebellar cyst Type II lissencephaly Cerebellar dysplasia Muscle fiber splitting Peters anomaly Aqueductal stenosis Buphthalmos Abnormality of the optic nerve Abnormal cortical gyration Forearm reduction defects


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