Brachydactyly, and Alopecia

Diseases related with Brachydactyly and Alopecia

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


Top matches:

Low match PARASTREMMATIC DWARFISM


Parastremmatic dwarfism is a very rare chondrodysplasia characterized by severe dwarfism, kyphoscoliosis, stiffness of large joints and distortion of lower limbs.

Related symptoms:

  • Short stature
  • Scoliosis
  • Flexion contracture
  • Brachydactyly
  • Short neck


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about PARASTREMMATIC DWARFISM

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

Low match ERYTHROKERATODERMIA VARIABILIS


The erythrokeratodermias are a clinically variable and genetically heterogeneous group of inherited disorders characterized by widespread erythematous plaques, stationary or migratory, associated with nonmigratory hyperkeratoses (summary by Ishida-Yamamoto et al., 1997). The condition is usually present at birth or occurs during the first year but may begin later in childhood or even in early adulthood. Lesions preferentially affect the face, buttocks, and extensor surfaces of the limbs. Palmoplantar keratoderma occurs in about half the cases, but hair, nails, and teeth are not affected (summary by Macfarlane et al., 1991). Genetic Heterogeneity of Erythrokeratodermia Variabilis et ProgressivaSee EKVP2 (OMIM ), caused by mutation in the GJB4 gene (OMIM ); EKVP3 (OMIM ), caused by mutation in the GJA1 gene (OMIM ); EKVP4 (OMIM ), caused by mutation in the KDSR gene (OMIM ); and EKVP5 (OMIM ), caused by mutation in the KRT83 gene (OMIM ).

ERYTHROKERATODERMIA VARIABILIS Is also known as psek|erythrokeratodermia variabilis et progressiva|ekvp|ekv|erythrokeratodermia variabilis, mendes da costa type|erythrokeratodermia figurata, congenital familial, in plaques|erythrokeratodermia, progressive symmetric|erythrokeratodermia variabilis with e

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about ERYTHROKERATODERMIA VARIABILIS

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Other less relevant matches:

Low match ALOPECIA-INTELLECTUAL DISABILITY 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

Low match RETINITIS PIGMENTOSA-HEARING LOSS-PREMATURE AGING-SHORT STATURE-FACIAL DYSMORPHISM SYNDROME


SHRF is an autosomal recessive disorder characterized by short stature, brachydactyly, dysmorphic facial features, hearing loss, and visual impairment. Onset of the hearing and visual abnormalities, including retinitis pigmentosa, varies from birth to the second decade. Patients have mild intellectual disability and mild cerebellar atrophy with myelination defects on brain imaging (summary by Di Donato et al., 2016).

RETINITIS PIGMENTOSA-HEARING LOSS-PREMATURE AGING-SHORT STATURE-FACIAL DYSMORPHISM SYNDROME Is also known as retinitis pigmentosa-deafness-premature aging-short stature-facial dysmorphism syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about RETINITIS PIGMENTOSA-HEARING LOSS-PREMATURE AGING-SHORT STATURE-FACIAL DYSMORPHISM SYNDROME

Low match BOOMERANG DYSPLASIA


Boomerang dysplasia (BD) is a rare lethal skeletal dysplasia characterized by severe short-limbed dwarfism, dislocated joints, club feet, distinctive facies and diagnostic x-ray findings of underossified and dysplastic long tubular bones, with a boomerang-like bowing.

Related symptoms:

  • Micrognathia
  • Cryptorchidism
  • Brachydactyly
  • Wide nasal bridge
  • Macrocephaly


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about BOOMERANG DYSPLASIA

Low match ACROOSTEOLYSIS-KELOID-LIKE LESIONS-PREMATURE AGING SYNDROME


Acroosteolysis-keloid-like lesions-premature aging syndrome is a rare, genetic, progeroid syndrome disorder characterized by a prematurely aged appearance (including lipoatrophy, thin, translucent skin, sparse, thin hair, and skeletal muscle atrophy), delayed tooth eruption, keloid-like lesions on pressure regions, and skeletal abnormalities including marked acroosteolysis, brachydactyly with small hands and feet, kyphoscoliosis, osteopenia, and progressive joint contractures in the fingers and toes. Craniofacial features include a thin calvarium, delayed closure of the anterior fontanel, flat occiput, shallow orbits, malar hypoplasia and narrow nose.

ACROOSTEOLYSIS-KELOID-LIKE LESIONS-PREMATURE AGING SYNDROME Is also known as premature aging syndrome, penttinen type

Related symptoms:

  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Micrognathia
  • Sensorineural hearing impairment


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about ACROOSTEOLYSIS-KELOID-LIKE LESIONS-PREMATURE AGING SYNDROME

Low match RIN2 SYNDROME


RIN2 syndrome, formerly known as macrocephaly, alopecia, cutis laxa and scoliosis (MACS) syndrome, is a very rare inherited connective tissue disorder characterized by macrocephaly, sparse scalp hair, soft-redundant and hyperextensible skin, joint hypermobility, and scoliosis. Patients have progressive facial coarsening with downslanted palpebral fissures, upper eyelid fullness/infraorbital folds, thick/everted vermillion, gingival overgrowth and abnormal position of the teeth. Rarer manifestations such as abnormal high-pitched voice, bronchiectasis, hypergonadotropic hypergonadism and brachydactyly (see this term) have also been reported.

RIN2 SYNDROME Is also known as rin2 deficiency|tall forehead, sparse hair, skin hyperextensibility, and scoliosis|tall forehead-sparse hair-skin hyperextensibility-scoliosis syndrome|macrocephaly-alopecia-cutis laxa-scoliosis syndrome|macs syndrome|macrocephaly, alopecia, cutis laxa, a

Related symptoms:

  • Intellectual disability
  • Short stature
  • Scoliosis
  • Muscular hypotonia
  • Cryptorchidism


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about RIN2 SYNDROME

Low match SYNDROMIC X-LINKED INTELLECTUAL DISABILITY DUE TO JARID1C MUTATION


Syndromic X-linked intellectual disability due to JARID1C mutation is characterised by mild to severe intellectual deficit associated with variable clinical manifestations including spasticity, cryptorchidism, maxillary hypoplasia, alopecia areata, epilepsy, short stature, impaired speech and behavioural problems. To date, it has been described in less than 15 families. Transmission is X-linked recessive and the syndrome is caused by mutations in the JARID1C (SMCX) gene encoding a JmjC-domain protein with histone demethylase activity.

SYNDROMIC X-LINKED INTELLECTUAL DISABILITY DUE TO JARID1C MUTATION Is also known as mental retardation, x-linked, syndromic, jarid1c-related|mrxsj

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about SYNDROMIC X-LINKED INTELLECTUAL DISABILITY DUE TO JARID1C MUTATION

Low match TORIELLO-LACASSIE-DROSTE SYNDROME


Oculo-ectodermal syndrome (OES) is characterized by the association of epibulbar dermoids and aplasia cutis congenital.

TORIELLO-LACASSIE-DROSTE SYNDROME Is also known as oculoectodermal syndrome|aplasia cutis congenita with epibulbar dermoids|aplasia cutis congenita-epibulbar dermoids syndrome

Related symptoms:

  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Growth delay
  • Neoplasm


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about TORIELLO-LACASSIE-DROSTE SYNDROME

Top 5 symptoms//phenotypes associated to Brachydactyly and Alopecia

Symptoms // Phenotype % cases
Short stature Common - Between 50% and 80% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Hearing impairment Uncommon - Between 30% and 50% cases
Scoliosis Uncommon - Between 30% and 50% cases
Macrocephaly Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Brachydactyly and Alopecia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Sparse hair Microcephaly Prominent nasal bridge Seizures Hyperhidrosis Muscular hypotonia Wide nasal bridge Sparse scalp hair Abnormal facial shape Strabismus Micrognathia Cryptorchidism Flexion contracture

Rare Symptoms - Less than 30% cases


Cognitive impairment Osteoporosis Proptosis Tapered finger Protruding ear Short palm Hyperkeratosis Short palpebral fissure Glaucoma High palate Diabetes mellitus Abnormality of cardiovascular system morphology Hypoplasia of the maxilla Retrognathia Dermal atrophy Abnormality of the nail Thin skin Growth delay Intellectual disability, mild Intellectual disability, severe Delayed speech and language development Thin upper lip vermilion Upslanted palpebral fissure Decreased body weight Long philtrum Short nose Anteverted nares Myopia Sensorineural hearing impairment Deeply set eye Global developmental delay Intellectual disability, progressive Hypergonadotropic hypogonadism Falls Ichthyosis Macrotia Polyhydramnios Delayed skeletal maturation Split hand Hypermetropia Nail dystrophy Midface retrusion Kyphoscoliosis Dry skin Hypothyroidism Severe short stature Cachexia Clinodactyly Finger syndactyly Cutaneous photosensitivity Fine hair Edema Arachnoid cyst Thick lower lip vermilion Thick vermilion border Everted lower lip vermilion Aortic aneurysm Single transverse palmar crease Abnormality of the bladder Overgrowth Narrow forehead Parietal bossing High myopia Abnormality of the penis Epibulbar dermoid Fibroma Transient ischemic attack Bladder exstrophy Bronchiectasis Epispadias Hirsutism Gingival overgrowth Lower limb asymmetry Aplasia cutis congenita Sparse and thin eyebrow Cutis laxa Increased susceptibility to fractures Abnormality of the ureter Hyperextensible skin Eyelid coloboma Redundant skin Abnormality of nervous system morphology Hyperactivity Bruising susceptibility Pterygium Prematurely aged appearance Slender long bone Lipoatrophy Long nose Delayed cranial suture closure Flat occiput Growth abnormality Narrow nose Wormian bones Hypotelorism Abnormality of the skin Abnormal conjunctiva morphology Gastrointestinal atresia Anisometropia Recurrent fractures Striae distensae Shallow orbits Joint hypermobility Coarse facial features Joint laxity High pitched voice Epidermal nevus Pes planus Laryngeal hypoplasia Umbilical hernia Hypogonadism Osteolytic defects of the phalanges of the hand Hernia Dilatation Downslanted palpebral fissures Exstrophy Thin calvarium Narrow philtrum Increased thyroid-stimulating hormone level Premature ovarian insufficiency Generalized hyperpigmentation Prolonged bleeding time Decreased testicular size Restlessness Multiple cafe-au-lait spots Progressive spastic paraplegia Lower limb hyperreflexia Large hands Interphalangeal joint contracture of finger Short foot Distal lower limb amyotrophy High, narrow palate Coloboma Stroke Facial asymmetry Short distal phalanx of finger Astigmatism Facial hypotonia Shuffling gait Abnormality of the cardiovascular system Blepharophimosis Agenesis of corpus callosum Hypospadias Telecanthus Epicanthus Depressed nasal bridge Feeding difficulties Failure to thrive Furrowed tongue Neoplasm Talipes calcaneovarus Small forehead Low frustration tolerance Lower limb hypertonia Alopecia areata Diastema Nevus Coarctation of aorta Abnormality of the sternum Opacification of the corneal stroma Abnormal lip morphology Irregular dentition Urethral stenosis Eclabion Hyperpigmentation of the skin Lymphedema Abnormality of the ear Infra-orbital fold Multiple lipomas Generalized osteoporosis Abnormality of the vasculature Aplasia/Hypoplasia of the skin Absent septum pellucidum Hamartoma Palpebral edema Upper eyelid edema Generalized hypotonia Smooth philtrum Aggressive behavior Aganglionic megacolon Paraplegia Poor speech Spastic paraplegia Camptodactyly of finger Delayed eruption of teeth Mandibular prognathia Spasticity Autism Micropenis Babinski sign Pectus excavatum Absent speech Talipes equinovarus Hyperreflexia Intellectual disability, moderate Micromelia Thin vermilion border Melanocytic nevus Split foot Alopecia of scalp Ectrodactyly Hypoplastic nipples Freckling Abnormality of dental morphology Oligodontia Generalized hypopigmentation Conjunctivitis Finger clinodactyly Skin ulcer Abnormality of the face Inflammatory abnormality of the skin Eczema Fair hair Sparse axillary hair Wide intermamillary distance Premature loss of permanent teeth Corneal opacity Skin rash Erythema Weight loss Cataract Adermatoglyphia Conical incisor Absent nipple Lacrimal duct atresia Nail pits Lacrimal duct stenosis Fingernail dysplasia Toenail dysplasia Nasolacrimal duct obstruction Breast hypoplasia Microdontia Nail dysplasia Palmoplantar keratoderma Malabsorption Abnormal intestine morphology Chronic diarrhea Bowing of the long bones Postural instability Nausea Genu valgum Nausea and vomiting Malnutrition Platyspondyly Arthritis Abdominal pain Kyphosis Diarrhea Vomiting Short neck Rheumatoid arthritis Scleroderma Ectodermal dysplasia Clinodactyly of the 5th finger Hypodontia Oral cleft Anal atresia Toe syndactyly Hypotrichosis Camptodactyly Syndactyly Thoracic kyphosis Abnormality of the dentition Intestinal polyp Peripheral edema Stiff neck Mucopolysacchariduria Protein-losing enteropathy Thoracolumbar scoliosis Pruritus Abnormal blistering of the skin Scarring Underdeveloped nasal alae Aplasia/Hypoplasia of the lungs Absent radius Abnormality of the metacarpal bones Short ribs Hydrops fetalis Omphalocele Growth hormone deficiency Abnormality of tibia morphology Narrow chest Broad distal phalanx of finger Wide nasal base Broad columella Congenital hypothyroidism Corneal dystrophy Abnormality of the ulna Abnormality of femur morphology Broad thumb Hypoplastic iliac body Osteopenia Microphthalmia Respiratory insufficiency Hypertelorism Poorly ossified vertebrae Hypoplastic nasal septum Severe short-limb dwarfism Aplasia/Hypoplasia of the abdominal wall musculature Aplasia/Hypoplasia of the fibula Abnormally ossified vertebrae Abnormal bone ossification Abnormality of the radius Fibular aplasia Abnormality of the humerus Coronal cleft vertebrae Progressive hearing impairment Delayed myelination Epidermal acanthosis Macule Diffuse palmoplantar hyperkeratosis Diffuse palmoplantar keratoderma Generalized hyperkeratosis Hypergranulosis Abnormality of the testis Irregular hyperpigmentation Hypermelanotic macule Photophobia Scaling skin Palmoplantar hyperkeratosis Neoplasm of the skin Generalized hirsutism Abnormality of the hair Thickened skin Hypertrichosis Patchy palmoplantar keratoderma EEG abnormality Broad nasal tip Motor delay Low-set, posteriorly rotated ears High forehead Posteriorly rotated ears Rod-cone dystrophy Cerebellar atrophy Hypertension Visual impairment Aplasia/Hypoplasia of the eyebrow Low-set ears Nystagmus Short corpus callosum Abnormality of skeletal morphology Abnormal nasal morphology Alopecia universalis Sparse body hair Ossifying fibroma



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