Flexion contracture, and Anteverted nares

Diseases related with Flexion contracture and Anteverted nares

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


Top matches:

Low match LETHAL FETAL CEREBRORENOGENITOURINARY AGENESIS/HYPOPLASIA SYNDROME


Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome is a rare, genetic developmental defect during embryogenesis malformation syndrome characterized by intrauterine growth restriction, flexion arthrogryposis of all joints, severe microcephaly, renal cystic dysplasia/agenesis/hypoplasia and complex malformations of the brain (cerebral and cerebellar hypoplasia, vermis, corpus callosum and/or occipital lobe agenesis, with or without arhinencephaly), as well as of the genitourinary tract (ureteral agenesis/hypoplasia, uterine hypoplasia and/or vaginal atresia), leading to fetal demise.

Related symptoms:

  • Microcephaly
  • Growth delay
  • Micrognathia
  • Low-set ears
  • Wide nasal bridge


SOURCES: OMIM ORPHANET MENDELIAN

More info about LETHAL FETAL CEREBRORENOGENITOURINARY AGENESIS/HYPOPLASIA SYNDROME

Low match CRISPONI SYNDROME


Crisponi syndrome (CS) is a severe disorder characterized by muscular contractions at birth, intermittent hyperthermia, facial abnormalities and camptodactyly.

Related symptoms:

  • Seizures
  • Scoliosis
  • Micrognathia
  • Cognitive impairment
  • Flexion contracture


SOURCES: ORPHANET MENDELIAN

More info about CRISPONI SYNDROME

Low match SEVERE NEURODEVELOPMENTAL DISORDER WITH FEEDING DIFFICULTIES-STEREOTYPIC HAND MOVEMENT-BILATERAL CATARACT


Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination is a syndromic form of severe to profound intellectual disability with onset of delayed psychomotor development and seizures in infancy. Affected children have hypotonia, feeding difficulties resulting in failure to thrive, and inability to speak or walk, and they tend to show repetitive stereotypic behaviors. Brain imaging shows cerebral atrophy and delayed myelination (summary by Schoch et al., 2017).

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about SEVERE NEURODEVELOPMENTAL DISORDER WITH FEEDING DIFFICULTIES-STEREOTYPIC HAND MOVEMENT-BILATERAL CATARACT

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Other less relevant matches:

Low match ANTLEY-BIXLER SYNDROME


Antley-Bixler syndrome is a very rare disorder characterised by craniosynostosis with midface hypoplasia, radiohumeral synostosis, femoral bowing and joint contractures.

Related symptoms:

  • Hypertelorism
  • Strabismus
  • Cleft palate
  • Downslanted palpebral fissures
  • Frontal bossing


SOURCES: ORPHANET MENDELIAN

More info about ANTLEY-BIXLER SYNDROME

Low match LETHAL CONGENITAL CONTRACTURE SYNDROME 9; LCCS9


Related symptoms:

  • Scoliosis
  • Growth delay
  • Hypertelorism
  • Micrognathia
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about LETHAL CONGENITAL CONTRACTURE SYNDROME 9; LCCS9

Low match STEEL SYNDROME


Steel syndrome is characterized by characteristic facies, dislocated hips and radial heads, carpal coalition (fusion of carpal bones), short stature, scoliosis, and cervical spine anomalies. The dislocated hips are resistant to surgical intervention (summary by Flynn et al., 2010).

STEEL SYNDROME Is also known as bilateral hip and radial head dislocations-short stature-scoliosis-carpal coalitions-pes cavus-facial dysmorphism syndrome|dislocated hips and radial heads, carpal coalition, scoliosis, and short stature

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about STEEL SYNDROME

Low match LEUKODYSTROPHY, HYPOMYELINATING, 17; HLD17


Hypomyelinating leukodystrophy-17 is an autosomal recessive neurodevelopmental disorder characterized by poor, if any, development apparent from infancy. Affected individuals never learn to walk or speak, and have early-onset multifocal seizures, spasticity, poor overall growth, and microcephaly (up to -10 SD). Brain imaging shows multiple abnormalities, including cerebral and cerebellar atrophy, thin corpus callosum, abnormal signals in the basal ganglia, and features suggesting hypo- or demyelination. Some patients may die in childhood (summary by Shukla et al., 2018).For a general phenotypic description and a discussion of genetic heterogeneity of hypomyelinating leukodystrophy, see {312080}.

Related symptoms:

  • Seizures
  • Microcephaly
  • Spasticity
  • Flexion contracture
  • Feeding difficulties


SOURCES: OMIM MENDELIAN

More info about LEUKODYSTROPHY, HYPOMYELINATING, 17; HLD17

Low match FAMILIAL VISCERAL MYOPATHY


Familial visceral myopathy is a rare hereditary myopathic degeneration of both gastrointestinal and urinary tracts that causes chronic intestinal pseudo-obstruction. It usually presents after the first decade of life with megaduodenum, megacystis and symptoms such as abdominal distension and/or pain, vomiting, constipation, diarrhea, dysphagia, and/or urinary tract infections.n.

FAMILIAL VISCERAL MYOPATHY Is also known as familial hollow visceral myopathy|megaduodenum and/or megacystis|hereditary hollow visceral myopathy

Related symptoms:

  • Microcephaly
  • Micrognathia
  • Cleft palate
  • Anteverted nares
  • Abnormality of cardiovascular system morphology


SOURCES: ORPHANET MENDELIAN

More info about FAMILIAL VISCERAL MYOPATHY

Low match INTELLECTUAL DISABILITY, BIRK-BAREL TYPE


Intellectual disability, Birk-Barel type is a rare, genetic, syndromic intellectual disability characterized by congenital central hypotonia, developmental delay, moderate to severe intellectual disability and subtle dysmorphic features which evolve over time (dolichocephaly, myopathic facies, ptosis, short and broad philtrum, tented upper lip vermillion, palatal anomalies, mild micro- and/or retrognathia). Patients present reduced facial movements, lethargy, weak cry, transient neonatal hypoglycemia, severe feeding difficulties and failure to thrive. Dysphagia, particularly of solid food, asthenic body build, joint contractures and scoliosis are additional features.

INTELLECTUAL DISABILITY, BIRK-BAREL TYPE Is also known as intellectual disability-hypotonia-facial dysmorphism syndrome|birk-barel mental retardation dysmorphism syndrome|mental retardation with hypotonia and facial dysmorphism

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about INTELLECTUAL DISABILITY, BIRK-BAREL TYPE

Low match DISTAL ARTHROGRYPOSIS TYPE 5D


Distal arthrogryposis type 5D is a rare subtype of distal arthrogryposis syndrome characterized by arthrogryposis multiplex congenita affecting the hands, feet, ankle, shoulders and/or neck, with camptodactyly of the fingers and limited knee and hip extension, associated with asymmetric ptosis and, less frequently, other ocular manifestations (e.g. ophthalmoplegia, strabismus). Affected individuals frequently have a bulbous nose, furrowed tongue, micro/retrognathia, a short neck, congenital hip dislocation, club feet, scoliosis and short stature.

DISTAL ARTHROGRYPOSIS TYPE 5D Is also known as distal arthrogryposis type 5 without ophthalmoparesis|da5d|distal arthrogryposis type 5 without ophthalmoplegia

Related symptoms:

  • Short stature
  • Scoliosis
  • Micrognathia
  • Cleft palate
  • Ptosis


SOURCES: OMIM ORPHANET MENDELIAN

More info about DISTAL ARTHROGRYPOSIS TYPE 5D

Top 5 symptoms//phenotypes associated to Flexion contracture and Anteverted nares

Symptoms // Phenotype % cases
Micrognathia Common - Between 50% and 80% cases
Scoliosis Uncommon - Between 30% and 50% cases
Microcephaly Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
Cleft palate Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Feeding difficulties Global developmental delay Hypertelorism Camptodactyly of finger Talipes Abnormal facial shape Talipes equinovarus Arthrogryposis multiplex congenita

Rare Symptoms - Less than 30% cases


Pterygium Low-set, posteriorly rotated ears Cerebral atrophy Lumbar hyperlordosis Absent speech Highly arched eyebrow Broad nasal tip Hypsarrhythmia Hip dislocation Broad forehead Downslanted palpebral fissures Abnormality of cardiovascular system morphology Hyperlordosis Narrow chest Joint stiffness Adducted thumb Pes planus Arachnodactyly Skeletal muscle atrophy Short stature Growth delay Spasticity Bilateral talipes equinovarus Congenital contracture Round face Kyphoscoliosis Camptodactyly Delayed speech and language development Congenital hip dislocation Intrauterine growth retardation Generalized hypotonia Intellectual disability Narrow mouth Low-set ears Rocker bottom foot High palate Wide nasal bridge Long philtrum Labial hypoplasia Pulmonary insufficiency Intellectual disability, profound Gingival overgrowth Leukodystrophy Spontaneous abortion Tented upper lip vermilion Furrowed tongue Hypoplastic labia majora Distal arthrogryposis Widely spaced teeth Low hanging columella Multifocal seizures Umbilical hernia Prominent nasal bridge Peripheral demyelination Hirsutism Inability to walk Tongue atrophy Limited elbow extension Dislocated radial head Thoracic scoliosis Hypoplasia of the odontoid process Synostosis of carpal bones Lower limb asymmetry Unilateral ptosis Acetabular dysplasia Calcaneovalgus deformity Shallow acetabular fossae Dislocation of the femoral head Hyperreflexia Hypoplasia of the corpus callosum Cerebellar atrophy Mandibular prognathia Abdominal distention Submucous cleft hard palate Elbow flexion contracture Vesicoureteral reflux Dolichocephaly Hypoglycemia Neonatal hypotonia Submucous cleft soft palate Tented philtrum Feeding difficulties in infancy Broad eyebrow Short philtrum Poor speech Mild short stature Neonatal hypoglycemia Thick eyebrow Oral-pharyngeal dysphagia High, narrow palate Spinal muscular atrophy Narrow forehead Sacral dimple Ptosis Hyperactivity Decreased muscle mass Megacystis Dysphonia Aganglionic megacolon Hydroureter Anonychia Hyperparathyroidism Aplasia/Hypoplasia of the abdominal wall musculature Abdominal situs inversus Muscle weakness Short neck Muscular hypotonia Exotropia Dysphagia Intellectual disability, severe Depressivity Bulbous nose Ophthalmoplegia Babinski sign Retrognathia Thoracic kyphoscoliosis Coxa vara Delayed myelination Large face Failure to thrive Cataract Difficulty walking Developmental regression Irritability Congenital cataract Stereotypy Hypohidrosis Mutism Poor head control Strabismus Frontal bossing Short nose Brachycephaly Proptosis Malignant hyperthermia Limitation of joint mobility Recurrent fractures Renal hypoplasia Cerebellar hypoplasia Agenesis of corpus callosum Abnormality of the kidney Bifid uvula Renal agenesis Sloping forehead Oligohydramnios Vaginal atresia Full cheeks Cerebral hypoplasia Cognitive impairment Respiratory insufficiency Hypertonia Kyphosis Hyperhidrosis Wide nose Sudden cardiac death Craniosynostosis Abnormality of the ribs Finger clinodactyly Midface retrusion Ulnar deviation of the hand Abnormality of the diaphragm Short umbilical cord Hearing impairment Sensorineural hearing impairment Pain Syndactyly Clinodactyly Cardiorespiratory arrest Clinodactyly of the 5th finger Prominent forehead Finger syndactyly Genu valgum Thin vermilion border Hip dysplasia Bilateral sensorineural hearing impairment Rhizomelia Preeclampsia Ankylosis Choanal atresia Elbow ankylosis Delayed cranial suture closure Femoral bowing Underdeveloped supraorbital ridges Turricephaly Hypoplasia of the zygomatic bone Abnormal renal morphology Narrow pelvis bone Depressed nasal bridge Joint contracture of the hand Hypertension Myopathy Respiratory failure Polyhydramnios Thin upper lip vermilion Pulmonary hypoplasia Triangular face Decreased fetal movement Limited knee flexion



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Frontal bossing and Nail dysplasia, related diseases and genetic alterations Brachydactyly and Upslanted palpebral fissure, related diseases and genetic alterations Low-set ears and Sensory impairment, related diseases and genetic alterations Obesity and Small nail, related diseases and genetic alterations Cognitive impairment and Brachycephaly, related diseases and genetic alterations Micrognathia and Microdontia, related diseases and genetic alterations Hypertension and Skin rash, related diseases and genetic alterations

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