Flexion contracture, and Omphalocele

Diseases related with Flexion contracture and Omphalocele

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

Top matches:

Tibial aplasia-ectrodactyly syndrome is a rare condition characterized by congenital ectrodactylous limb malformations associated with tibial aplasia or hypoplasia.

TIBIAL APLASIA-ECTRODACTYLY SYNDROME Is also known as split-hand/foot malformation associated with aplasia of long bones|tibial hemimelia-ectrodactyly syndrome|tibial hemimelia with split hand/foot malformation|shfm associated with aplasia of long bones|tibial aplasia with split-hand/split-foot deformity|cle

Related symptoms:

  • Brachydactyly
  • Talipes equinovarus
  • Syndactyly
  • Camptodactyly
  • Finger syndactyly


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about TIBIAL APLASIA-ECTRODACTYLY SYNDROME

NEK9-related lethal skeletal dysplasia is a rare, lethal, primary bone dysplasia characterized by fetal akinesia, multiple contractures, shortening of all long bones, short, broad ribs, narrow chest and thorax, pulmonary hypoplasia and a protruding abdomen. Short bowed femurs may also be associated.

NEK9-RELATED LETHAL SKELETAL DYSPLASIA Is also known as lethal skeletal dysplasia-fetal akinesia-contractures-thoracic dysplasia-pulmonary hypoplasia syndrome

Related symptoms:

  • Micrognathia
  • Flexion contracture
  • High palate
  • Intrauterine growth retardation
  • Ventricular septal defect


SOURCES: OMIM ORPHANET MENDELIAN

More info about NEK9-RELATED LETHAL SKELETAL DYSPLASIA

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

Other less relevant matches:

Fibrochondrogenesis is a rare, neonatally lethal, rhizomelic chondrodysplasia. Eleven cases have been reported. The face is distinctive and characterized by protuberant eyes, flat midface, flat small nose with anteverted nares and a small mouth with long upper lip. Cleft palate, micrognathia and bifid tongue can occur. The limbs show marked shortness of all segments with relatively normal hands and feet. No internal anomalies other than omphalocele have been reported. Transmission is probably autosomal recessive. Recurrence in a consanguineous family (affecting both sexes) and concordance of affected male twins have been reported.

Related symptoms:

  • Short stature
  • Hearing impairment
  • Hypertelorism
  • Micrognathia
  • Cleft palate


SOURCES: OMIM ORPHANET MENDELIAN

More info about FIBROCHONDROGENESIS

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

Cerebro-costo-mandibular syndrome (CCMS) is characterized at birth by posterior rib gaps and orofacial anomalies reminiscent of Pierre Robin syndrome (see this term) that include palatal defects (short hard palate, absent soft palate, absent uvula), micrognathia and glossoptosis.

CEREBROCOSTOMANDIBULAR SYNDROME Is also known as rib gap defects with micrognathia

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about CEREBROCOSTOMANDIBULAR SYNDROME

Miller-Dieker Syndrome (MDS) is a contiguous gene deletion syndrome of chromosome 17p13.3, characterised by classical lissencephaly (lissencephaly type 1) and distinct facial features. Additional congenital malformations can be part of the condition.

MILLER-DIEKER SYNDROME Is also known as monosomy 17p13.3|lissencephaly due to 17p13.3 deletion|mds|telomeric deletion 17p

Related symptoms:

  • Intellectual disability
  • Seizures
  • Microcephaly
  • Ataxia
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about MILLER-DIEKER SYNDROME

Carpenter syndrome is a rare autosomal recessive disorder with the cardinal features of acrocephaly with variable synostosis of the sagittal, lambdoid, and coronal sutures; peculiar facies; brachydactyly of the hands with syndactyly; preaxial polydactyly and syndactyly of the feet; congenital heart defects; growth retardation; mental retardation; hypogenitalism; and obesity. In addition, cerebral malformations, oral and dental abnormalities, coxa valga, genu valgum, hydronephrosis, precocious puberty, and hearing loss may be observed (summary by Altunhan et al., 2011). Genetic Heterogeneity of Carpenter SyndromeCarpenter syndrome-2 (CRPT2 ), in which the features of Carpenter syndrome are sometimes associated with defective lateralization, is caused by mutation in the MEGF8 gene (OMIM ).

CARPENTER SYNDROME 1; CRPT1 Is also known as carpenter syndrome|acrocephalopolysyndactyly type ii|acps ii

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about CARPENTER SYNDROME 1; CRPT1

Ichthyosis follicularis - alopecia - photophobia (IFAP) is a rare genetic disorder characterized by the triad of ichthyosis follicularis, alopecia, and photophobia from birth.

ICHTHYOSIS FOLLICULARIS-ALOPECIA-PHOTOPHOBIA SYNDROME Is also known as ichthyosis follicularis-atrichia-photophobia syndrome|ifap syndrome|ichthyosis follicularis, atrichia, and photophobia with or without brain anomalies, retardation, ectodermal dysplasia, skeletal malformations, hirschsprung disease, ear/eye anomalies, cle

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about ICHTHYOSIS FOLLICULARIS-ALOPECIA-PHOTOPHOBIA SYNDROME

Otopalatodigital syndrome type 2 (OPD2) is a severe form of otopalatodigital syndrome spectrum disorder, and is characterized by dysmorphic facies, severe skeletal dysplasia affecting the axial and appendicular skeleton, extraskeletal anomalies (including malformations of the brain, heart, genitourinary system, and intestine) and poor survival.

OTOPALATODIGITAL SYNDROME TYPE 2 Is also known as faciopalatoosseous syndrome|opd syndrome 2|opd ii syndrome|fpo|cranioorodigital syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about OTOPALATODIGITAL SYNDROME TYPE 2

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

Symptoms // Phenotype % cases
Micrognathia Common - Between 50% and 80% cases
Low-set ears Common - Between 50% and 80% cases
Growth delay Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Cleft palate

Uncommon Symptoms - Between 30% and 50% cases

Intellectual disability

Common Symptoms - More than 50% cases

Camptodactyly

Uncommon Symptoms - Between 30% and 50% cases

Syndactyly Short nose Malar flattening Cryptorchidism Hearing impairment Talipes equinovarus Intrauterine growth retardation Hypertelorism Depressed nasal bridge Abnormality of the ribs Narrow chest Toe syndactyly Short neck Sacral dimple High palate Camptodactyly of finger Scoliosis Abnormality of the pinna Postaxial hand polydactyly Clinodactyly of the 5th finger Frontal bossing Global developmental delay Failure to thrive Umbilical hernia Hydronephrosis Atrial septal defect Anteverted nares Epicanthus Corneal opacity Myopia Brachydactyly Hypoplasia of the maxilla Opacification of the corneal stroma Talipes Hydroureter Finger syndactyly Thoracic hypoplasia Joint contracture of the hand Absent eyebrow Absent eyelashes Flat face Platyspondyly Narrow mouth Midface retrusion Downslanted palpebral fissures Cataract Abnormality of cardiovascular system morphology Hernia Polyhydramnios Skeletal dysplasia Polydactyly Femoral bowing Long philtrum Ventricular septal defect Posteriorly rotated ears Pulmonary hypoplasia Clinodactyly Conductive hearing impairment Postnatal growth retardation

Rare Symptoms - Less than 30% cases

Plagiocephaly Postaxial polydactyly Short ribs Preaxial polydactyly Hypoplastic toenails Broad thumb Bell-shaped thorax Hypoplastic scapulae Genu valgum Short palm Wide anterior fontanel Abnormal heart morphology Limb undergrowth Inguinal hernia Agenesis of corpus callosum Prominent forehead Severe short stature Brachycephaly Cerebral cortical atrophy Respiratory insufficiency Ventriculomegaly Hydrocephalus Hypoplastic fingernail Obesity Cerebellar hypoplasia Glossoptosis Flared iliac wings Kyphosis Abnormality of the dentition Hypospadias Patent ductus arteriosus Oxycephaly Congenital hip dislocation Respiratory distress Multicystic kidney dysplasia Tracheomalacia Pierre-Robin sequence Microphthalmia Feeding difficulties Coxa valga Seizures Motor delay Alopecia totalis Anal stenosis Hypoplasia of the corpus callosum Short thumb Confusion Alopecia Mixed hearing impairment Abnormal cardiac septum morphology Myelomeningocele Thin vermilion border Interphalangeal joint contracture of finger Ectropion Atresia of the external auditory canal Popliteal pterygium Cutaneous syndactyly Oligohydramnios Abnormality of the genital system Ambiguous genitalia Corneal erosion Underdeveloped nasal alae Overlapping fingers Broad ribs Short metacarpal Lethal skeletal dysplasia Ectodermal dysplasia Dry skin Cupped ear Hydrops fetalis Ectrodactyly Labial hypoplasia Short hallux Fibular hypoplasia Optic atrophy Hyperhidrosis Respiratory tract infection Developmental regression Abnormality of the kidney Mental deterioration Abnormality of femur morphology Photophobia Macrotia Hyperkeratosis Dementia Hypohidrosis Recurrent respiratory infections Abnormality of the foot Delayed skeletal maturation Recurrent infections Dilatation Telecanthus Immunodeficiency Intellectual disability, severe Muscular hypotonia Erythema Scarring Renal dysplasia Patellar aplasia Aganglionic megacolon Choanal atresia Epidermal acanthosis Eczema Specific learning disability Abnormality of fibula morphology Nail dysplasia Brain atrophy Palmoplantar keratoderma Hip dislocation Ichthyosis Cerebral atrophy Hypogonadism Kyphoscoliosis Hypoplasia of dental enamel Astigmatism Hypotrichosis Nail dystrophy Nystagmus Papule Lateral displacement of patellae Duplication of the proximal phalanx of the hallux External genital hypoplasia Split foot Turricephaly Foot polydactyly Underdeveloped supraorbital ridges Transposition of the great arteries Cystic hygroma Microcornea Agenesis of permanent teeth Overfolded helix Tetralogy of Fallot Coronal craniosynostosis Metatarsus adductus Mild short stature Preauricular pit Precocious puberty Preaxial hand polydactyly Genu varum Delayed gross motor development Aplasia/Hypoplasia of the corpus callosum Spina bifida occulta Double outlet right ventricle Polysplenia Craniosynostosis Aplasia/Hypoplasia of the middle phalanges of the hand Pseudoepiphyses of the proximal phalanges of the hand Complete duplication of proximal phalanx of the thumb Short femur Aplasia/Hypoplasia of the middle phalanges of the toes Multiple suture craniosynostosis Large foramen magnum Craniofacial asymmetry Cranial asymmetry Abnormal vertebral morphology Shallow acetabular fossae Preaxial foot polydactyly Accessory spleen Abdominal wall defect Persistence of primary teeth Lambdoidal craniosynostosis Limitation of joint mobility Pulmonic stenosis Sagittal craniosynostosis Cloverleaf skull Split hand Short upper lip Abnormality of dental enamel Abnormality of the hair Elbow dislocation Synostosis of carpal bones Thickened calvaria Abnormal heart valve morphology Pathologic fracture Tarsal synostosis Tibial bowing Congenital glaucoma Broad hallux Hyperostosis Rocker bottom foot Prominent supraorbital ridges Carpal synostosis Short metatarsal Abnormality of the genitourinary system Abnormality of the metacarpal bones Oligodontia Wormian bones Increased bone mineral density Large fontanelles Bowing of the long bones Encephalocele Bifid uvula Growth hormone excess Radial bowing Retrognathia Abnormal vertebral segmentation and fusion Undulate clavicles Irregular metacarpals Vertical clivus Bulbous tips of toes Accessory carpal bones Ureteral obstruction Radial deviation of the 2nd finger Rudimentary fibula Bilateral coxa valga Spondylolysis Abnormality of the middle ear ossicles Anodontia Hypoplastic frontal sinuses Sclerosis of skull base Ulnar bowing Chordee Wide nasal base Fibular aplasia Bilateral conductive hearing impairment Delayed closure of the anterior fontanelle Broad face Short 1st metacarpal Hypoplastic ilia Broad forehead Respiratory failure Abnormality of the nail Intestinal obstruction Alopecia of scalp Parakeratosis Uveitis Submucous cleft hard palate Oligodactyly Atonic seizures Congenital ichthyosiform erythroderma Abnormality of the vertebral column Absent septum pellucidum Keratitis Bifid scrotum Abnormal eyelash morphology Unilateral renal agenesis Erythroderma Psoriasiform dermatitis Scaling skin Urticaria Abnormality of the hand Bitemporal hollowing Conjunctivitis Recurrent bacterial infections Hemivertebrae Blepharitis Abnormal eyelid morphology Pectus excavatum Episcleritis Abnormality of the skeletal system Macrocephaly Unilateral chest hypoplasia Ichthyosis follicularis Abnormal pelvis bone morphology Thin fingernail Scleritis Hypoplasia of the bladder Cerebral cortical hemiatrophy Paronychia Hyperconvex fingernails Follicular hyperkeratosis Abnormality of temperature regulation Abnormal nasolacrimal system morphology Subcortical cerebral atrophy Corneal scarring Abnormality of the upper urinary tract Cheilitis Alopecia universalis Thin eyebrow Olivopontocerebellar atrophy Recurrent corneal erosions Heat intolerance Sensorineural hearing impairment Thick upper lip vermilion Midline brain calcifications Cleft lip Short palpebral fissure Renal hypoplasia Small nail Wide intermamillary distance Oral cleft Cleft upper lip Microdontia Arthrogryposis multiplex congenita Blepharophimosis Pes planus Short phalanx of finger Hypoplasia of penis Fine hair Hypertrichosis Thin skin Widely patent sagittal suture Posterior vertebral hypoplasia Widely patent coronal suture Pear-shaped vertebrae Broad ischia Dumbbell-shaped long bone Sparse scalp hair Cafe-au-lait spot Thin clavicles Aplasia cutis congenita Synostosis of joints Aplasia/Hypoplasia of the distal phalanges of the toes Ankyloblepharon Sparse or absent eyelashes Short sternum Prominent superficial veins Eyelid coloboma Hypoplastic labia majora Skin tags Median cleft lip Facial cleft Dental malocclusion Multiple cafe-au-lait spots Absent thumb Truncal obesity Aplasia/Hypoplasia of the eyebrow Anonychia Mask-like facies Bilateral cryptorchidism Pterygium Renal hypoplasia/aplasia Narrow palpebral fissure Posterior rib cupping Narrow greater sacrosciatic notches Unilateral renal hypoplasia Aplasia/Hypoplasia of the nipples Small hand Hypoplasia of the zygomatic bone Abnormality of finger Micromelia Pectus carinatum Proptosis Abnormal hair pattern Conical tooth High-frequency hearing impairment Absent nipple Round face Breast hypoplasia Excessive wrinkled skin Overbite Abnormal nasal morphology Long uvula Ventral hernia Absent hair Microtia, third degree Ablepharon Cryptophthalmos Short foot Shallow orbits Broad long bones Protuberant abdomen Anterior rib cupping Long clavicles Hypoplastic ischia Abnormal diaphysis morphology Metaphyseal cupping Bifid tongue Short chin Hearing abnormality Cutis laxa Megalocornea Thin ribs High myopia Abnormality of the outer ear Patent foramen ovale Short long bone Redundant skin Sparse eyebrow Hypoplastic nipples Rhizomelia Abnormal form of the vertebral bodies Abnormality of the metaphysis Abnormality of the mouth Hypoplastic male external genitalia Adactyly Type I lissencephaly Upslanted palpebral fissure Nephropathy Wide nose Paraplegia Spastic paraplegia EEG abnormality Thin upper lip vermilion High forehead Aplasia/Hypoplasia of the ulna Absent tibia Aplasia/Hypoplasia of the tibia Delayed eruption of teeth Hand monodactyly Rudimentary to absent tibiae Absent forearm Aplasia of the 3rd finger Abnormality of metabolism/homeostasis Dysphagia Wide nasal bridge Cardiomegaly Ptosis Abnormal facial shape Single transverse palmar crease Abnormality of the cardiovascular system Ataxia Infantile spasms Abnormality of upper lip Pelvic kidney Decerebrate rigidity Agyria Recurrent aspiration pneumonia Cavum septum pellucidum Deep palmar crease Abnormality of female external genitalia Duodenal atresia Premature skin wrinkling Progressive spastic paraplegia Narrow forehead Prominent occiput Spastic diplegia Abnormality of neuronal migration Deep philtrum Infantile muscular hypotonia Lissencephaly Spastic gait Heterotopia Pachygyria Decreased fetal movement Neoplasm Paradoxical respiration Oral synechia Overriding aorta Elbow flexion contracture Spina bifida Cerebral calcification Webbed neck Renal cyst Cough Gastroesophageal reflux Hypoplasia of the thymus Stiff neck Delayed speech and language development Horseshoe kidney Visual impairment Edema Wide mouth Sparse hair Microtia Cognitive impairment Abnormality of skin pigmentation Symblepharon Bilateral cleft palate Sparse lower eyelashes Fetal akinesia sequence Thoracic scoliosis Rib gap Cleft soft palate Posterior rib gap Calcaneal epiphyseal stippling Anomalous rib insertion to vertebrae Anomalous tracheal cartilage Absent soft palate Absent uvula Short hard palate Mandibular aplasia Hydranencephaly Porencephalic cyst 11 pairs of ribs Nasal speech Missing ribs Narrow palate Torticollis Meningocele Adducted thumb Akinesia Short humerus Anteriorly placed anus Ectopic kidney Neonatal respiratory distress Nonossified fifth metatarsal


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