Flexion contracture, and Ambiguous genitalia

Diseases related with Flexion contracture and Ambiguous genitalia

In the following list you will find some of the most common rare diseases related to Flexion contracture and Ambiguous genitalia 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

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Cryptorchidism
  • Low-set ears


SOURCES: OMIM MENDELIAN

More info about GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES; GRDF

Van der Woude syndrome (VWS) is a dominantly inherited developmental disorder characterized by pits and/or sinuses of the lower lip, and cleft lip and/or cleft palate (CL/P, CP). It is the most common cleft syndrome. Genetic Heterogeneity of van der Woude SyndromeAlso see VWS2 (OMIM ), caused by mutation in the GRHL3 gene (OMIM ) on chromosome 1p36.

VAN DER WOUDE SYNDROME 1; VWS1 Is also known as cleft lip and/or palate with mucous cysts of lower lip|pit|lps|lip-pit syndrome|vdws

Related symptoms:

  • Scoliosis
  • Micrognathia
  • Cleft palate
  • Cryptorchidism
  • Flexion contracture


SOURCES: OMIM MENDELIAN

More info about VAN DER WOUDE SYNDROME 1; VWS1

Other less relevant matches:

The Antley-Bixler syndrome (ABS) is an exceptionally rare craniosynostosis syndrome characterized by radiohumeral synostosis present from the perinatal period. There is a wide spectrum of anomalies seen in ABS; other features include midface hypoplasia, choanal stenosis or atresia, multiple joint contractures, visceral anomalies (particularly of the genitourinary system), and impaired steroidogenesis (present only in patients with POR mutations). Mortality has been reported to be as high as 80% in the neonatal period, primarily due to airway compromise, and prognosis improves with increasing age (summary by McGlaughlin et al., 2010).

Related symptoms:

  • Microcephaly
  • Scoliosis
  • Hypertelorism
  • Cryptorchidism
  • Flexion contracture


SOURCES: OMIM MENDELIAN

More info about ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS; ABS1

Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency is a unique form of congenital adrenal hyperplasia (CAH; see this term) characterized by glucocorticoid deficiency, severe sexual ambiguity in both sexes and skeletal (especially craniofacial) malformations.

CONGENITAL ADRENAL HYPERPLASIA DUE TO CYTOCHROME P450 OXIDOREDUCTASE DEFICIENCY Is also known as disordered steroidogenesis due to por deficiency|congenital adrenal hyperplasia due to cytochrome por deficiency|pord|adrenal hyperplasia, congenital, due to cytochrome p450 oxidoreductase deficiency|por deficiency

Related symptoms:

  • Short stature
  • Scoliosis
  • Cryptorchidism
  • Low-set ears
  • Flexion contracture


SOURCES: OMIM ORPHANET MENDELIAN

More info about CONGENITAL ADRENAL HYPERPLASIA DUE TO CYTOCHROME P450 OXIDOREDUCTASE DEFICIENCY

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

X-linked alpha thalassaemia mental retardation (ATR-X) syndrome in males is associated with profound developmental delay, facial dysmorphism, genital abnormalities and alpha thalassaemia. Female carriers are usually physically and intellectually normal.

ALPHA-THALASSEMIA-X-LINKED INTELLECTUAL DISABILITY SYNDROME Is also known as atr-x syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Microcephaly
  • Hypertelorism


SOURCES: ORPHANET MENDELIAN

More info about ALPHA-THALASSEMIA-X-LINKED INTELLECTUAL DISABILITY SYNDROME

Pelviscapular dysplasia (Cousin syndrome) is characterized by the association of pelviscapular dysplasia with epiphyseal abnormalities, congenital dwarfism and facial dysmorphism.

PELVISCAPULAR DYSPLASIA Is also known as craniofacial dysmorphism, hypoplasia of scapula and pelvis, and short stature|familial pelvis-scapular dysplasia|cousin syndrome|pelviscapular dysplasia

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Hypertelorism
  • Micrognathia


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about PELVISCAPULAR DYSPLASIA

Bartsocas-Papas syndrome is a rare, inherited, popliteal pterygium syndrome (see this term) characterized by severe popliteal webbing, microcephaly, a typical face with short palpebral fissures, ankyloblepharon, hypoplastic nose, filiform bands between the jaws and facial clefts, oligosyndactyly, genital abnormalities, and additional ectodermal anomalies (i.e. absent hair, eyebrows, lashes, nails). It is often fatal in the neonatal period, but patients living until childhood have been reported.

BARTSOCAS-PAPAS SYNDROME Is also known as pterygium, popliteal, lethal type|autosomal recessive popliteal pterygium syndrome|bps|lethal popliteal pterygium syndrome|multiple pterygium syndrome, aslan type|bartsocas-papas syndrome

Related symptoms:

  • Intellectual disability
  • Short stature
  • Microcephaly
  • Growth delay
  • Hypertelorism


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about BARTSOCAS-PAPAS SYNDROME

Van den Ende-Gupta syndrome is a very rare syndrome characterized by blepharophimosis, arachnodactyly, joint contractures, and characteristic dysmorphic features.

VAN DEN ENDE-GUPTA SYNDROME Is also known as marden-walker-like syndrome|vdegs|blepharophimosis, arachnodactyly, and congenital contractures|marden-walker-like syndrome without psychomotor retardation

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about VAN DEN ENDE-GUPTA SYNDROME

Top 5 symptoms//phenotypes associated to Flexion contracture and Ambiguous genitalia

Symptoms // Phenotype % cases
Hypertelorism Common - Between 50% and 80% cases
Low-set ears Common - Between 50% and 80% cases
Cryptorchidism Common - Between 50% and 80% cases
Short stature Uncommon - Between 30% and 50% cases
Talipes equinovarus Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Microcephaly Abnormality of the genital system Frontal bossing Choanal stenosis Toe syndactyly Global developmental delay Cleft palate Abnormality of the pinna Micrognathia Camptodactyly Choanal atresia Syndactyly Hypospadias Finger syndactyly Pterygium Scoliosis Hypoplasia of the maxilla Labial hypoplasia Hydronephrosis Underdeveloped nasal alae Bifid scrotum Joint contracture of the hand Blepharophimosis Growth delay Midface retrusion Intellectual disability Abnormality of the skeletal system Malar flattening Depressed nasal bridge Narrow mouth Hypoplastic scapulae Craniosynostosis Femoral bowing Arachnodactyly

Rare Symptoms - Less than 30% cases

Abnormal facial shape Laryngomalacia Cleft upper lip Micropenis Brachycephaly Polycystic ovaries Joint stiffness Cleft lip Everted lower lip vermilion Oral cleft Corneal opacity Short neck Clitoral hypertrophy Hearing impairment Microphthalmia Short nose Anteverted nares Popliteal pterygium Ankyloblepharon Hypoplastic labia majora Scrotal hypoplasia Myopia Humeroradial synostosis Ambiguous genitalia, female Narrow palpebral fissure Clinodactyly of the 5th finger Respiratory distress Ambiguous genitalia, male Redundant skin Ectropion Absent eyebrow Absent eyelashes Omphalocele Brachydactyly Muscular hypotonia Dislocated radial head Agenesis of corpus callosum Abnormality of cardiovascular system morphology Male pseudohermaphroditism Intrauterine growth retardation Elbow flexion contracture Sacral dimple Generalized hypotonia Delayed skeletal maturation Hypoplasia of penis Feeding difficulties Feeding difficulties in infancy Short palpebral fissure Triangular face Ulnar bowing Macrocephaly Maternal virilization in pregnancy Hypoplastic iliac wing Microglossia Stenosis of the external auditory canal Hip dislocation Strabismus Low posterior hairline Microcornea 2-3 toe syndactyly Bell-shaped thorax Mesomelia Hydrocephalus Deeply set eye Posteriorly rotated ears Severe short stature Rhizomelia Congenital hip dislocation Abnormality of the male genitalia Depressed nasal ridge Abnormality of fontanelles Epicanthus Cerebral cortical atrophy Constipation Depressivity Behavioral abnormality Abnormality of the dentition Blindness Optic atrophy Anemia Gastroesophageal reflux Sensorineural hearing impairment Seizures Long uvula Ventral hernia Absent hair Microtia, third degree Ablepharon Autism Telecanthus U-Shaped upper lip vermilion Abnormality of the face Abnormal hemoglobin Profound global developmental delay Volvulus Dysphasia Self-injurious behavior Encephalitis Tented upper lip vermilion Recurrent urinary tract infections Abnormality of the kidney Aganglionic megacolon Hypoplastic ilia Thick lower lip vermilion Macroglossia Flat face Abnormality of movement Nausea and vomiting Spastic paraplegia Short femur Wide intermamillary distance Redundant neck skin Symblepharon Asthma High, narrow palate Protruding ear Macrotia Pectus excavatum Intellectual disability, severe High palate Failure to thrive Bilateral cleft palate Dandy-Walker malformation Sparse lower eyelashes Oral synechia Adactyly Unilateral renal hypoplasia Hypoplastic male external genitalia Synostosis of joints Aplasia/Hypoplasia of the distal phalanges of the toes Sparse or absent eyelashes Short sternum Convex nasal ridge Bowing of the long bones Prominent superficial veins Sclerocornea Long metacarpals Glenoid fossa hypoplasia Distal ulnar hypoplasia Narrow foot Camptodactyly of toe Long hallux Lateral clavicle hook Eclabion Single umbilical artery Abnormal eyebrow morphology Dental crowding Narrow nose Thin ribs Slender long bone Narrow nasal bridge Hallux valgus Stridor Congenital contracture Knee flexion contracture Cardiac arrest Alopecia totalis Eyelid coloboma Fibular aplasia Abnormality of the skull base Arthrogryposis multiplex congenita Pes planus Alopecia Obesity Abnormality of the joint spaces of the elbow Anterior rounding of vertebral bodies Absent proximal finger flexion creases Prominent protruding coccyx Mesomelic leg shortening Confusion Microtia, first degree Alveolar ridge overgrowth Facial hirsutism 4-5 toe syndactyly Hypoplastic pubic bone Hypoplastic ischia Long clavicles Wrist flexion contracture Hydranencephaly Talipes Abnormality of female external genitalia Skin tags Hypoplastic toenails Median cleft lip Anal stenosis Aplasia cutis congenita Facial cleft Multiple cafe-au-lait spots Absent thumb Truncal obesity Aplasia/Hypoplasia of the eyebrow Anonychia Mask-like facies Small nail Bilateral cryptorchidism Cupped ear Renal hypoplasia/aplasia Opacification of the corneal stroma Short thumb Cafe-au-lait spot Short phalanx of finger Sparse scalp hair Renal hypoplasia Cryptophthalmos Thin vermilion border Short upper lip Lip pit Small for gestational age Conductive hearing impairment Proptosis Abnormality of metabolism/homeostasis Intercrural pterygium Lower lip pit Fibrous syngnathia Nonketotic hyperglycinemia Horseshoe kidney Ankyloglossia Non-midline cleft lip Cerebral palsy Generalized hirsutism Abnormality of the nail Split hand Abnormality of the ribs Specific learning disability Oligohydramnios Hemivertebrae Bifid uvula Bronchomalacia Broad forehead Osteoporosis Clinodactyly Hypertension Low maternal serum estriol Vesicovaginal fistula Abnormalities of placenta or umbilical cord Chordee Arnold-Chiari malformation Cloverleaf skull Abnormality of the endocrine system Abnormality of abdomen morphology Carpal synostosis Tarsal synostosis Multiple joint contractures Rocker bottom foot Radioulnar synostosis Otitis media Hypodontia Hirsutism Atrioventricular canal defect Abdominal situs inversus Anomalous pulmonary venous return Complete atrioventricular canal defect Pulmonary artery atresia Asplenia Polysplenia Abnormal lung lobation Dextrocardia Total anomalous pulmonary venous return Situs inversus totalis Anal atresia Pulmonic stenosis Abnormal cardiac septum morphology Abnormal heart morphology Congestive heart failure Atrial septal defect Ventricular septal defect Heterotaxy Biliary atresia Falls Decreased body weight Neurological speech impairment Thin upper lip vermilion Difficulty walking Penoscrotal hypospadias Unilateral cryptorchidism Melanocytic nevus Relative macrocephaly Finger clinodactyly Small hand Common atrium Retrognathia Prominent forehead Patent ductus arteriosus Motor delay Right atrial isomerism Bilateral trilobed lungs Left atrial isomerism Single ventricle Delayed puberty Decreased testicular size Abnormal nasal morphology Abnormality of skin pigmentation Hypertrichosis Fine hair Interphalangeal joint contracture of finger Microdontia Dental malocclusion Short metacarpal Ectodermal dysplasia Dry skin Short chin Microtia Camptodactyly of finger Sparse hair Wide mouth Umbilical hernia Hernia Visual impairment Delayed speech and language development Thin skin Cutaneous syndactyly Ectopic adrenal gland Abnormal hair pattern Overbite Excessive wrinkled skin Breast hypoplasia Absent nipple Aplasia/Hypoplasia of the nipples High-frequency hearing impairment Conical tooth Corneal erosion Cutis laxa Abnormality of finger Hypoplasia of the zygomatic bone Shallow orbits Abnormality of the mouth Hypoplastic nipples Sparse eyebrow Atresia of the external auditory canal Abnormality of the outer ear Androgen insufficiency Abnormality of the labia majora Tall stature Adrenal hypoplasia Abnormal vagina morphology Decreased serum estradiol Absence of secondary sex characteristics Ovarian cyst Decreased serum testosterone level Decreased circulating cortisol level Adrenal hyperplasia Primary adrenal insufficiency Urogenital sinus anomaly Aortic root aneurysm Generalized hyperpigmentation Decreased fertility Disproportionate tall stature Flat occiput Acne Reduced bone mineral density Accelerated skeletal maturation Perineal hypospadias Abnormality of the menstrual cycle Hyperpigmented genitalia Decreased fertility in males Female sexual dysfunction Abnormality of prenatal development or birth Increased circulating androgen level Decreased circulating androgen level Enlarged ovaries Pear-shaped nose Abnormal sex determination Congenital adrenal hypoplasia Female external genitalia in individual with 46,XY karyotype Enlarged polycystic ovaries Premature adrenarche Adrenocorticotropic hormone excess Adrenogenital syndrome Hypoplasia of the vagina Increased serum testosterone level Decreased fertility in females Congenital adrenal hyperplasia Increased circulating ACTH level Slender metacarpals


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