Flexion contracture, and Broad forehead

Diseases related with Flexion contracture and Broad forehead

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

Top matches:

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 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

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

Other less relevant matches:

Intellectual developmental disorder with dysmorphic facies and ptosis is an autosomal dominant neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability, delayed language, and dysmorphic facial features, most notably ptosis/blepharophimosis. Additional features may include poor growth, hypotonia, and seizures (summary by Mattioli et al., 2017).See also chromosome 3p deletion syndrome (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND PTOSIS; IDDDFP

Low match WEAVER SYNDROME

Weaver syndrome (WVS) is a rare, multisystem disorder characterized by tall stature, a typical facial appearance (hypertelorism, retrognathia) and variable intellectual disability. Additional features may include camptodactyly, soft doughy skin, umbilical hernia, and a low hoarse cry.

WEAVER SYNDROME Is also known as camptodactyly-overgrowth-unusual facies syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Scoliosis
  • Hypertelorism
  • Micrognathia


SOURCES: ORPHANET MENDELIAN

More info about WEAVER SYNDROME

Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by short stature, conductive hearing loss due to bilateral auditory canal atresia, mandibular hypoplasia and multiple skeletal abnormalities, including bilateral humeral hypoplasia, humeroscapular synostosis, delayed pubis rami ossification, central dislocation of the hips, and proximal femora defects, as well as bilateral talipes equinovarus, proximally implanted thumbs and lumbar hyperlordosis. Associated craniofacial dysmorphism includes micro/scaphocephaly, malar hypoplasia, high-arched palate, and simple, dysplastic pinnae with prearicular pits/tags.

SHORT STATURE-AUDITORY CANAL ATRESIA-MANDIBULAR HYPOPLASIA-SKELETAL ANOMALIES SYNDROME Is also known as sams syndrome

Related symptoms:

  • Short stature
  • Hearing impairment
  • Micrognathia
  • Abnormal facial shape
  • Cryptorchidism


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about SHORT STATURE-AUDITORY CANAL ATRESIA-MANDIBULAR HYPOPLASIA-SKELETAL ANOMALIES SYNDROME

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

Congenital disorder of glycosylation with defective fucosylation is an autosomal recessive multisystemic disorder apparent from birth. Affected infants have poor growth, failure to thrive, hypotonia, skeletal anomalies, and delayed psychomotor development with intellectual disability. Additional highly variable congenital defects may be observed (summary by Ng et al., 2018).For an overview of congenital disorders of glycosylation (CDG), see CDG1A (OMIM ) and CDG2A (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about CONGENITAL DISORDER OF GLYCOSYLATION WITH DEFECTIVE FUCOSYLATION; CDGF

Infantile hypotonia with psychomotor retardation and characteristic facies-2 is a severe autosomal recessive neurodevelopmental disorder with onset at birth or in early infancy. Affected individuals show severe global developmental delay with poor or absent speech and absent or limited ability to walk. Some patients may have seizures that can be controlled; brain structure is typically normal (summary by Shamseldin et al., 2016).For a general phenotypic description and a discussion of genetic heterogeneity of infantile hypotonia with psychomotor retardation and characteristic facies, see IHPRF1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 2; IHPRF2

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

Top 5 symptoms//phenotypes associated to Flexion contracture and Broad forehead

Symptoms // Phenotype % cases
Abnormal facial shape Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Scoliosis Uncommon - Between 30% and 50% cases
Cryptorchidism Uncommon - Between 30% and 50% cases
Microcephaly Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Anteverted nares Short stature Intellectual disability Feeding difficulties Intrauterine growth retardation Abnormality of the skeletal system Talipes equinovarus Downslanted palpebral fissures Hip dislocation Failure to thrive Prominent forehead Micrognathia Wide nasal bridge Hypertelorism Hearing impairment Atrial septal defect Round face Generalized hypotonia Seizures Narrow mouth Retrognathia Epicanthus Deeply set eye Camptodactyly Arachnodactyly

Rare Symptoms - Less than 30% cases

Ptosis Dislocated radial head Short philtrum Blepharophimosis Cleft palate Abnormality of cardiovascular system morphology Low-set, posteriorly rotated ears Tall stature Joint stiffness Abnormality of the pinna Abnormal heart morphology Camptodactyly of finger Prominent nasal bridge Long philtrum High palate Accelerated skeletal maturation Hypoplasia of the corpus callosum Rhizomelia Growth delay Strabismus Brachycephaly Spasticity Frontal bossing Abnormal cardiac septum morphology Long nose Hirsutism Severe global developmental delay Finger clinodactyly Pointed chin Osteopenia Ventricular septal defect Delayed speech and language development Anal atresia Midface retrusion Clinodactyly High forehead Short nose Carious teeth Joint laxity Low-set ears Talipes Constipation Finger syndactyly Appendicular hypotonia Generalized tonic seizures Profound global developmental delay Hypoglycemia Facial hypotonia Kyphoscoliosis Polyhydramnios Tented upper lip vermilion Hypothyroidism Plagiocephaly Hip contracture Infantile muscular hypotonia Global brain atrophy Failure to thrive in infancy Limb undergrowth Cachexia Neutropenia Esotropia Severe muscular hypotonia Nystagmus Dystonia Cerebral atrophy Absent speech Encephalopathy Posteriorly rotated ears Thin upper lip vermilion Muscular hypotonia of the trunk Profound static encephalopathy Smooth philtrum Bulbous nose Inability to walk Dyskinesia Congenital neutropenia Choreoathetosis Small hand Buphthalmos Congenital glaucoma Nephrocalcinosis Tapered finger Sleep disturbance Narrow forehead Triangular face Brain atrophy Prominent nose Short neck Intellectual disability, profound Open mouth Poor speech Androgen insufficiency Hypertension Adrenocorticotropic hormone excess Perineal hypospadias Ambiguous genitalia, male Urogenital sinus anomaly Abnormality of the menstrual cycle Enlarged polycystic ovaries Increased circulating ACTH level Congenital adrenal hyperplasia Decreased fertility in females Ambiguous genitalia, female Increased serum testosterone level Hypoplasia of the vagina Adrenogenital syndrome Premature adrenarche Decreased serum estradiol Female external genitalia in individual with 46,XY karyotype Decreased fertility in males Congenital adrenal hypoplasia Abnormal sex determination Pear-shaped nose Enlarged ovaries Decreased circulating androgen level Increased circulating androgen level Abnormality of prenatal development or birth Female sexual dysfunction Hyperpigmented genitalia Abnormality of the labia majora Ectopic adrenal gland Abnormal vagina morphology Absence of secondary sex characteristics Hypospadias Bifid scrotum Delayed skeletal maturation Osteoporosis Micropenis Craniosynostosis Delayed puberty Decreased testicular size Ambiguous genitalia Choanal atresia Reduced bone mineral density Polycystic ovaries Clitoral hypertrophy Acne Thin lower lip vermilion Ovarian cyst Flat occiput Disproportionate tall stature Femoral bowing Decreased fertility Generalized hyperpigmentation Aortic root aneurysm Primary adrenal insufficiency Male pseudohermaphroditism Adrenal hypoplasia Adrenal hyperplasia Choanal stenosis Decreased circulating cortisol level Decreased serum testosterone level Glaucoma Microphthalmia Muscular ventricular septal defect Hyperparathyroidism Lower limb asymmetry Acetabular dysplasia Shallow acetabular fossae Dislocation of the femoral head Umbilical hernia Narrow chest Abdominal distention Vesicoureteral reflux Aganglionic megacolon Hydroureter Anonychia Aplasia/Hypoplasia of the abdominal wall musculature Hypoplasia of the odontoid process Abdominal situs inversus Megacystis Edema Agenesis of corpus callosum Gastroesophageal reflux Wide mouth Abnormality of the cerebral white matter Joint hypermobility Flat face Downturned corners of mouth Bilateral ptosis Language impairment Synostosis of carpal bones Thoracic scoliosis Delayed ability to walk Pain Pectus excavatum Intestinal malrotation Coarctation of aorta Thin skin Abnormality of the genital system Dental crowding Short chin Cutis marmorata Narrow nose Soft skin Narrow maxilla Sensorineural hearing impairment Syndactyly Limited elbow extension Clinodactyly of the 5th finger Pes planus Hyperlordosis Genu valgum Thin vermilion border Hip dysplasia Bilateral sensorineural hearing impairment Lumbar hyperlordosis Congenital hip dislocation Coxa vara Mild short stature Bilateral talipes equinovarus Vertebral fusion Abnormal myelination Left-to-right shunt Dental malocclusion Short humerus Scaphocephaly Hypoplastic scapulae Hypoplastic ilia Delayed ossification of pubic rami Scapulohumeral synostosis Myopia Abnormality of the dentition Intellectual disability, mild Patent ductus arteriosus Upslanted palpebral fissure Renal agenesis Proximal placement of thumb Short palpebral fissure Recurrent urinary tract infections Horseshoe kidney Premature ovarian insufficiency Unilateral renal agenesis Overlapping toe Low hanging columella Mild microcephaly High anterior hairline Perimembranous ventricular septal defect Velopharyngeal insufficiency Endometriosis Preauricular pit Atresia of the external auditory canal Unilateral cryptorchidism Abnormality of the fingernails Macrocephaly Hypertonia Inguinal hernia Pes cavus Macrotia Feeding difficulties in infancy Joint hyperflexibility Hypoplasia of penis Fine hair Abnormality of the metaphysis Broad thumb Hoarse voice Sandal gap Abnormality of the genitourinary system Deep philtrum Redundant skin Large hands Hypoplastic toenails Broad foot Thin nail Deep-set nails Abnormally low-pitched voice Respiratory insufficiency Malar flattening Conductive hearing impairment Hypotelorism Maternal virilization in pregnancy


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