Flexion contracture, and Sparse scalp hair

Diseases related with Flexion contracture and Sparse scalp hair

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

Top matches:

Low match EEM SYNDROME

EEM syndrome is characterised by the association of ectodermal dysplasia, ectrodactyly, and macular dystrophy. So far, it has been described in individuals from seven families. Hypotrichosis, dental anomalies and absent eyebrows have also been reported. EMM syndrome appears to be transmitted as an autosomal recessive trait and may be caused by mutations in the cadherin-3 gene (CH3, 16q22.1).

EEM SYNDROME Is also known as eem syndrome|ectodermal dysplasia-ectrodactyly-macular dystrophy syndrome

Related symptoms:

  • Strabismus
  • Abnormality of the dentition
  • Syndactyly
  • Abnormality of the eye
  • Camptodactyly


SOURCES: ORPHANET OMIM MENDELIAN

More info about EEM SYNDROME

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

Alopecia-intellectual deficit syndrome is an extremely rare syndrome described in less than 20 families to date and characterized by total or partial alopecia associated with intellectual deficit. The syndrome can be associated with other anomalies such as seizures, sensorineural hearing loss, delayed psychomotor development, and/or hypertonia.

ALOPECIA-INTELLECTUAL DISABILITY SYNDROME Is also known as perniola-krajewska-carnevale syndrome|amr syndrome|apmr

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Hearing impairment
  • Microcephaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about ALOPECIA-INTELLECTUAL DISABILITY SYNDROME

Other less relevant matches:

Ayme-Gripp syndrome is a clinically homogeneous phenotype characterized by congenital cataracts, sensorineural hearing loss, intellectual disability, seizures, brachycephaly, a distinctive flat facial appearance, and reduced growth (Niceta et al., 2015).

AYME-GRIPP SYNDROME; AYGRP Is also known as cataracts, congenital, with sensorineural deafness, down syndrome-like facial appearance, short stature, and mental retardation

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about AYME-GRIPP SYNDROME; AYGRP

Goldberg-Shprintzen megacolon syndrome is a multiple malformation syndrome characterized by Hirschprung megacolon with microcephaly, hypertelorism, submucous cleft palate, short stature and learning disability.

GOLDBERG-SHPRINTZEN MEGACOLON SYNDROME Is also known as goldberg-shprintzen megacolon syndrome|goshs|megacolon-microcephaly syndrome

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about GOLDBERG-SHPRINTZEN MEGACOLON SYNDROME

Woodhouse-Sakati syndrome is a multisystemic disorder characterized by hypogonadism, alopecia, diabetes mellitus, intellectual deficit and extrapyramidal signs with choreoathetoid movements and dystonia.

WOODHOUSE-SAKATI SYNDROME Is also known as hypogonadism, alopecia, diabetes mellitus, mental retardation, deafness, and extrapyramidal syndrome|extrapyramidal disorder, progressive, with primary hypogonadism, mental retardation, and alopecia|diabetes-hypogonadism-deafness-intellectual disability s

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Scoliosis
  • Hypertelorism


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about WOODHOUSE-SAKATI SYNDROME

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

Ehlers-Danlos syndrome, progeroid type (EDS-PF) is a form of Ehlers-Danlos syndrome characterized by a premature aging with sparse hair, macrocephaly, loose elastic skin, failure to thrive, joint laxity, psychomotor retardation, hypotonia, and defective wound healing with atrophic scars.

EHLERS-DANLOS SYNDROME, PROGEROID TYPE Is also known as pds, defective biosynthesis of|ehlers-danlos syndrome with short stature and limb anomalies|edsp1, formerly|eds, progeroid type|xgpt deficiency|dermatan sulfate proteoglycan|proteodermatan sulfate, defective biosynthesis of|edssla|xylosylprotein 4-beta-ga

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about EHLERS-DANLOS SYNDROME, PROGEROID TYPE

Spondyloepimetaphyseal dysplasia with joint laxity type 1 (SEMDJL1) is characterized by vertebral abnormalities and ligamentous laxity that result in spinal misalignment and progressive severe kyphoscoliosis, thoracic asymmetry, and respiratory compromise resulting in early death. Nonaxial skeletal involvement includes elbow deformities with radial head dislocation, dislocated hips, clubfeet, and tapered fingers with spatulate distal phalanges. Many affected children have an oval face, flat midface, prominent eyes with blue sclerae, and a long philtrum. Palatal abnormalities and congenital heart disease are also observed (summary by Smith et al., 1999). Patients with a similar phenotype and fractures have been described (Malfait et al., 2013).

SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY Is also known as spondyloepimetaphyseal dysplasia with joint laxity, beighton type|semdjl1|semdjl|semd-jl|spondyloepimetaphyseal dysplasia with joint laxity type 1

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY

Low match EEC SYNDROME

EEC syndrome is a genetic developmental disorder characterized by ectrodactyly, ectodermal dysplasia, and orofacial clefts (cleft lip/palate).

EEC SYNDROME Is also known as eec syndrome 3|ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Sensorineural hearing impairment
  • Cleft palate


SOURCES: OMIM ORPHANET MENDELIAN

More info about EEC SYNDROME

Top 5 symptoms//phenotypes associated to Flexion contracture and Sparse scalp hair

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Hypertelorism Uncommon - Between 30% and 50% cases
Cleft palate Uncommon - Between 30% and 50% cases
Hearing impairment Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Flexion contracture and Sparse scalp hair. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Scoliosis Alopecia Camptodactyly Finger syndactyly Abnormality of the dentition Wide nasal bridge Brachydactyly Intellectual disability, mild Seizures Short neck Muscular hypotonia Syndactyly Global developmental delay Depressed nasal bridge Fine hair Low-set ears Sparse and thin eyebrow Split hand Talipes equinovarus Midface retrusion Pes planus Cryptorchidism Ectodermal dysplasia Wide intermamillary distance Microtia Flat face Tapered finger Generalized hypotonia Sparse eyebrow Blue sclerae Hypoplasia of the maxilla Sensorineural hearing impairment Toe syndactyly Abnormal facial shape Ectrodactyly Aplasia/Hypoplasia of the eyebrow Sparse eyelashes Downslanted palpebral fissures Microcephaly Narrow mouth Malar flattening Hypotrichosis Prominent nasal bridge Nail dystrophy Microdontia Growth delay Oral cleft Sparse hair

Rare Symptoms - Less than 30% cases

High forehead Long philtrum Radioulnar synostosis Short nose Epicanthus Ventricular septal defect Ptosis Cleft lip Hypospadias Coxa valga Severe short stature Prominent forehead Osteoporosis Proptosis Kyphoscoliosis Skeletal dysplasia Joint laxity Pectus carinatum Joint hyperflexibility Hypoplastic toenails Bilateral cryptorchidism Joint hypermobility Renal hypoplasia/aplasia Nevus Joint dislocation Protruding ear Triangular face Thick eyebrow Aganglionic megacolon Corneal erosion High palate Micropenis Arthrogryposis multiplex congenita Soft, doughy skin Hyperextensible skin Hypogonadotrophic hypogonadism Micrognathia Abnormality of cardiovascular system morphology Blepharophimosis Elbow dislocation Cleft upper lip Advanced ossification of carpal bones Telecanthus Dry skin Abnormality of dental morphology Hypodontia Fair hair Sparse axillary hair Thin skin Split foot Hyperhidrosis Clinodactyly Nail pits Hypoplastic nipples Selective tooth agenesis Sparse body hair Cutaneous photosensitivity Absent eyebrow Generalized hypopigmentation Carious teeth Photophobia Macrotia Oligodontia Hypergonadotropic hypogonadism Mild global developmental delay Periodontitis Atypical scarring of skin Gingivitis Palmoplantar cutis gyrata Genu recurvatum Abnormality of primary teeth Thin nail Myopia Abnormality of the skeletal system Atrial septal defect Short clavicles Proportionate short stature Duplicated collecting system Curly hair Progeroid facial appearance Slender toe Varicose veins Forearm undergrowth Large joint dislocations Central diabetes insipidus Prominent scalp veins Urethral stenosis Flat forehead Absent earlobe Talipes equinovalgus Ulnar bowing Inflammatory abnormality of the eye Dermal translucency Testicular torsion Long toe Poor wound healing Small face Phalangeal dislocation Generalized osteoporosis Facial wrinkling Hypohidrosis Abnormality of the nasopharynx Transverse vaginal septum Megacystis Scarring Aplasia/Hypoplasia of the breasts Abnormality of the nervous system Abnormality of the inner ear Osteopenia Mesoaxial polydactyly Periorbital hyperpigmentation Hypermetropia Generalized microdontia Pectus excavatum Hernia Macrocephaly Skeletal muscle atrophy Motor delay Failure to thrive Symblepharon Broad forehead Narrow chest Abnormality of the middle ear Elbow flexion contracture Atrophic scars Bowing of the legs Bladder diverticulum Lipodystrophy Ureterocele Cutis laxa Accelerated skeletal maturation Dacryocystitis Aortic valve stenosis Pulmonic stenosis Bowing of the long bones Congenital diaphragmatic hernia Bifid uvula Single transverse palmar crease Bruising susceptibility Abnormality of skin pigmentation Urethral atresia Arachnodactyly Kyphosis Genu valgum Hyperlordosis Blue irides Dilatation Delayed proximal femoral epiphyseal ossification Flaring of rib cage Hypoplastic iliac body Short iliac bones Large iliac wings Cupped ribs Radial head subluxation Taurodontia Polydactyly Dysuria Hip subluxation Sparse pubic hair Long upper lip Hypoplasia of the thymus Abnormal bone ossification Oval face Sparse lower eyelashes Depressed nasal tip Xerostomia Lens luxation Renal dysplasia Cutaneous syndactyly Hypoplasia of dental enamel Coarse hair Reduced number of teeth Proximal placement of thumb Keratitis Hydroureter Recurrent urinary tract infections Choanal atresia Blepharitis Renal agenesis Aplasia/Hypoplasia of the skin Growth hormone deficiency Aplasia/Hypoplasia of the thumb Lymphoma External ear malformation Vesicoureteral reflux Hydronephrosis Hyperkeratosis Anterior hypopituitarism Short nail Abnormal cardiac septum morphology Limb undergrowth Increased susceptibility to fractures Slow-growing hair Short long bone Bicuspid aortic valve Abnormality of epiphysis morphology Decreased body weight Mitral regurgitation Abnormality of the metaphysis Short metacarpal Entropion Short foot High, narrow palate Short palm Micromelia Aplasia/Hypoplasia of the nipples Paraplegia Abnormality of dental enamel Platyspondyly Hip dislocation Ectopia lentis Epiphyseal dysplasia Broad distal phalanx of finger Exostoses Lethal skeletal dysplasia Flared iliac wings 11 pairs of ribs Spondyloepimetaphyseal dysplasia Ovoid vertebral bodies Radial bowing Spinal cord compression Carpal synostosis Irregular vertebral endplates Metaphyseal widening Dislocated radial head Fragile skin Slender long bone Lacrimation abnormality Pathologic fracture Short femoral neck Hallux valgus Flared metaphysis Metatarsus adductus Bilateral cleft palate Strabismus Oral synechia Broad philtrum Coloboma Craniosynostosis Cerebellar hypoplasia Constipation Hypoplasia of the corpus callosum Ventriculomegaly Craniofacial asymmetry Broad eyebrow Shallow orbits Severe global developmental delay Arnold-Chiari type I malformation Pericarditis Delayed cranial suture closure Mild short stature Tented upper lip vermilion Thin vermilion border Smooth philtrum Congenital cataract Thin upper lip vermilion Short philtrum Synophrys Brachycephaly Long eyelashes Delayed speech and language development Cognitive impairment Corneal ulceration Megalocornea Hypoplasia of the brainstem Bifid scrotum Abnormality of the genitourinary system Pointed chin Progressive microcephaly Pachygyria Bulbous nose Optic disc pallor Sloping forehead Specific learning disability Highly arched eyebrow Everted lower lip vermilion Small hand Thick vermilion border Iris coloboma Polymicrogyria Mandibular prognathia Upslanted palpebral fissure Hyperreflexia Nail dysplasia Melanocytic nevus Dermal atrophy Conjunctivitis Finger clinodactyly Abnormality of the nail Skin ulcer Abnormality of the face Inflammatory abnormality of the skin Eczema Anal atresia Alopecia of scalp Clinodactyly of the 5th finger Macular dystrophy Abnormality of vision Widely spaced teeth Macular degeneration Joint contracture of the hand Abnormality of retinal pigmentation Retinopathy Abnormality of the eye Freckling Absent nipple Posteriorly rotated ears EEG abnormality Cerebral atrophy Cataract Short corpus callosum Abnormality of skeletal morphology Abnormal nasal morphology Alopecia universalis Intellectual disability, progressive Falls Ichthyosis Delayed skeletal maturation Breast hypoplasia Intellectual disability, severe Adermatoglyphia Premature loss of permanent teeth Conical incisor Lacrimal duct atresia Lacrimal duct stenosis Fingernail dysplasia Toenail dysplasia Nasolacrimal duct obstruction Peripheral neuropathy Dysarthria Adactyly Cafe-au-lait spot Mask-like facies Cupped ear Ectropion Pterygium Sacral dimple Narrow palpebral fissure Opacification of the corneal stroma Short thumb Short phalanx of finger Truncal obesity Abnormality of the genital system Omphalocele Short palpebral fissure Renal hypoplasia Small nail Ambiguous genitalia Underdeveloped nasal alae Confusion Talipes Anonychia Absent thumb Obesity Labial hypoplasia Unilateral renal hypoplasia Hypoplastic male external genitalia Synostosis of joints Aplasia/Hypoplasia of the distal phalanges of the toes Popliteal pterygium Ankyloblepharon Sparse or absent eyelashes Short sternum Alopecia totalis Prominent superficial veins Multiple cafe-au-lait spots Eyelid coloboma Hypoplastic scapulae Hypoplastic labia majora Skin tags Absent eyelashes Median cleft lip Anal stenosis Aplasia cutis congenita Facial cleft Corneal opacity Microphthalmia Gait disturbance Abnormality of movement Abnormality of extrapyramidal motor function Bilateral sensorineural hearing impairment Dehydration Amenorrhea Decreased testicular size Dental malocclusion Prominent nose Polyneuropathy Sensory neuropathy Delayed puberty Myocardial infarction Mental deterioration Hypothyroidism Diabetes mellitus Hypogonadism Babinski sign Abnormality of metabolism/homeostasis Dystonia Diarrhea Frontal bossing Psychosis Primary amenorrhea Intrauterine growth retardation Decreased serum testosterone level Progressive alopecia Hypoplasia of the fallopian tube Progressive extrapyramidal movement disorder Decreased serum insulin-like growth factor 1 Streak ovary Increased thyroid-stimulating hormone level Abnormal spermatogenesis Abnormal T-wave Decreased serum estradiol Anodontia Choreoathetosis Heart block Insulin-resistant diabetes mellitus Autoimmune thrombocytopenia Hypoplasia of the uterus Flat occiput Premature ovarian insufficiency Hyperlipidemia Purpura Hallucinations Absence of Stensen duct


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