Brachydactyly, and Thin skin
Diseases related with Brachydactyly and Thin skin
In the following list you will find some of the most common rare diseases related to Brachydactyly and Thin skin that can help you solving undiagnosed cases.
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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
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
SHORT syndrome is a rare inherited condition of multiple anomalies whose name stands for short stature, hyperextensibility of joints, ocular depression, Rieger anomaly (see this term) and teething delay which, along with mild intrauterine growth restriction, partial lipodystrophy, delayed bone age, hernias and progeroid appearance, are manifestations of the disease.
SHORT SYNDROME Is also known as lipodystrophy-rieger anomaly-diabetes syndrome|short stature, hyperextensibility, hernia, ocular depression, rieger anomaly, and teething delay|aarskog-ose-pande syndrome|lipodystrophy, partial, with rieger anomaly and short stature|rieger anomaly-partial
Related symptoms:
- Global developmental delay
- Short stature
- Hearing impairment
- Microcephaly
- Hypertelorism
SOURCES:
OMIM
MESH
ORPHANET
MENDELIAN
More info about SHORT SYNDROME
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Other less relevant matches:
2q32q33 microdeletion syndrome is a recently described syndrome characterized by a variable phenotype involving moderate to severe intellectual deficit, significant speech delay, persistent feeding difficulties, growth retardation and dysmorphic features.
2Q32Q33 MICRODELETION SYNDROME Is also known as monosomy 2q32-q33|2q32-q33 microdeletion syndrome|del(2)(q32q33)|chromosome 2q32-q33 deletion syndrome|monosomy 2q32q33|del(2)(q32)|monosomy 2q32
Related symptoms:
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
- Generalized hypotonia
SOURCES:
ORPHANET
OMIM
MESH
MENDELIAN
More info about 2Q32Q33 MICRODELETION SYNDROME
Lenz-Majewski hyperostotic dwarfism is an extremely rare syndrome associating dwarfism, characteristic facial appearance, cutis laxa and progressive bone sclerosis.
LENZ-MAJEWSKI HYPEROSTOTIC DWARFISM Is also known as lenz-majewski syndrome
Related symptoms:
- Intellectual disability
- Global developmental delay
- Short stature
- Generalized hypotonia
- Microcephaly
SOURCES:
ORPHANET
MESH
OMIM
MENDELIAN
More info about LENZ-MAJEWSKI HYPEROSTOTIC DWARFISM
Noonan-like syndrome with loose anagen hair (NS/LAH) is a Noonan-related syndrome, characterized by facial anomalies suggestive of Noonan syndrome (see this term); a distinctive hair anomaly described as loose anagen hair syndrome (see this term); frequent congenital heart defects; distinctive skin features with darkly pigmented skin, keratosis pilaris, eczema or occasional neonatal ichtyosis (see this term); and short stature, often associated with a GH deficiency and psychomotor delays.
NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR Is also known as ns/lah|tosti syndrome
Related symptoms:
- Intellectual disability
- Global developmental delay
- Short stature
- Generalized hypotonia
- Hearing impairment
SOURCES:
OMIM
ORPHANET
MENDELIAN
More info about NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR
Goltz syndrome or focal dermal hypoplasia is characterized by a polymorphic cutaneous disorder and highly variable anomalies affecting the eyes, teeth, skeleton and the central nervous, urinary, gastrointestinal and cardiovascular systems.
FOCAL DERMAL HYPOPLASIA Is also known as dhof|goltz syndrome|goltz-gorlin syndrome|fodh
Related symptoms:
- Intellectual disability
- Short stature
- Hearing impairment
- Microcephaly
- Scoliosis
SOURCES:
ORPHANET
OMIM
MESH
MENDELIAN
More info about FOCAL DERMAL HYPOPLASIA
Some ectodermal dysplasias are here classified as congenital disorders characterized by abnormal development in 2 or more ectodermal structures (hair, nails, teeth, and sweat glands) without other systemic findings.Hypohidrotic, or anhidrotic, ectodermal dysplasia is characterized by a triad of signs comprising sparse hair (hypotrichosis), abnormal or missing teeth (anodontia or hypodontia), and inability to sweat (anhidrosis or hypohidrosis). Typical clinical manifestations also include dryness of the skin, eyes, airways, and mucous membranes presumably due to the defective development of several exocrine glands. Hypohidrotic ectodermal dysplasia can be associated with dysmorphic features (forehead bumps, rings under the eyes, everted nose, and prominent lips) and occasionally with absent nipples (summary by Cluzeau et al., 2011).For a discussion of genetic heterogeneity of hypohidrotic/anhidrotic ectodermal dysplasia, see {305100}.
ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE; ECTD10B Is also known as eda|ectodermal dysplasia, hypohidrotic|hed|ectodermal dysplasia, anhidrotic
Related symptoms:
- Depressed nasal bridge
- Hypertension
- Frontal bossing
- Hyperhidrosis
- Hyperkeratosis
SOURCES:
OMIM
MENDELIAN
More info about ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE; ECTD10B
Top 5 symptoms//phenotypes associated to Brachydactyly and Thin skin
Symptoms // Phenotype |
% cases |
Micrognathia |
Common - Between 50% and 80% cases
|
Short stature |
Common - Between 50% and 80% cases
|
Sparse hair |
Common - Between 50% and 80% cases
|
Hypertelorism |
Common - Between 50% and 80% cases
|
Dermal atrophy |
Common - Between 50% and 80% cases
|
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Other less frequent symptoms
Patients with Brachydactyly and Thin skin. may also develop some of the following symptoms:
Common Symptoms - More than 50% cases
Abnormality of the dentition
Uncommon Symptoms - Between 30% and 50% cases
Alopecia
Global developmental delay
Hearing impairment
Intellectual disability
Delayed eruption of teeth
Microcephaly
Low-set ears
Growth delay
Hypotrichosis
Strabismus
Prematurely aged appearance
Generalized hypotonia
Scoliosis
Joint laxity
Macrotia
Hernia
Frontal bossing
Macrocephaly
Ptosis
Prominent forehead
Inguinal hernia
Failure to thrive
Abnormal facial shape
Oligodontia
Intrauterine growth retardation
High palate
Delayed skeletal maturation
Hypodontia
Fine hair
Hyperhidrosis
Ectodermal dysplasia
Midface retrusion
Thin vermilion border
Hydrocephalus
Dental malocclusion
Hyperkeratosis
Proptosis
Cryptorchidism
Relative macrocephaly
Muscular hypotonia
Delayed speech and language development
Short palm
Cleft palate
Finger syndactyly
Abnormality of the skin
Nystagmus
Gastroesophageal reflux
Nail dysplasia
Postnatal growth retardation
Narrow mouth
Microdontia
Hoarse voice
Posteriorly rotated ears
Feeding difficulties
Anteverted nares
Nail dystrophy
Carious teeth
Sensorineural hearing impairment
Insulin resistance
Abnormality of dental morphology
Short nose
Hypoplastic nipples
Joint hyperflexibility
Ventricular septal defect
Abnormality of dental enamel
Wide nasal bridge
Progeroid facial appearance
Syndactyly
Clinodactyly of the 5th finger
Prominent nasal bridge
Camptodactyly
Clinodactyly
Thick vermilion border
Rare Symptoms - Less than 30% cases
Arnold-Chiari malformation
Hiatus hernia
Seizures
Increased body weight
Hypoplasia of the iris
Congenital hip dislocation
Reduced subcutaneous adipose tissue
Nephrocalcinosis
Aplasia/Hypoplasia of the eyebrow
Hyperglycemia
Coarse hair
Premature skin wrinkling
Depressed nasal bridge
Downslanted palpebral fissures
Patent ductus arteriosus
Intellectual disability, severe
Aplasia/Hypoplasia of the skin
Umbilical hernia
High, narrow palate
Large fontanelles
Hypoplasia of dental enamel
Abnormality of the skeletal system
Increased intracranial pressure
Anteriorly placed anus
Coloboma
Sparse and thin eyebrow
Intestinal malrotation
Epicanthus
Ventriculomegaly
Atrial septal defect
Iris coloboma
Abnormality of cardiovascular system morphology
Hypoglycemia
Abnormality of the pinna
Absent speech
Smooth philtrum
Hyperpigmentation of the skin
Brachycephaly
Hyperactivity
Thin upper lip vermilion
Attention deficit hyperactivity disorder
Abnormality of the foot
Facial asymmetry
Long face
Mandibular prognathia
Polydactyly
Convex nasal ridge
Dental crowding
Coarctation of aorta
Abnormality of digit
Short neck
Agenesis of corpus callosum
Broad forehead
High forehead
Microcornea
Delayed cranial suture closure
Diabetes mellitus
Severe short stature
Abnormal heart morphology
Malar flattening
Myopia
Split hand
Abnormality of the face
Narrow nose
Abnormality of the nail
Lipoatrophy
Long nose
Freckling
Eczema
Ectrodactyly
Short distal phalanx of finger
Absent nipple
Scarring
Retrognathia
Osteopenia
Nasolacrimal duct obstruction
Kyphoscoliosis
Osteoporosis
Microphthalmia
Lacrimal duct stenosis
Flexion contracture
Sparse scalp hair
Split foot
Dry skin
Corneal opacity
Telecanthus
Toe syndactyly
Joint hypermobility
Downturned corners of mouth
Wide intermamillary distance
Weight loss
Furrowed tongue
Bilateral conductive hearing impairment
Ketoacidosis
Ovarian cyst
Thick nail
Long penis
Slow-growing hair
Hypocholesterolemia
Advanced eruption of teeth
Ovoid vertebral bodies
Recurrent infections
Peripheral pulmonary artery stenosis
Bell-shaped thorax
Growth hormone excess
Abnormality of the thyroid gland
Hypohidrotic ectodermal dysplasia
Metatarsus adductus
Neonatal respiratory distress
Clitoral hypertrophy
Thickened helices
Sparse eyebrow
Precocious puberty
Diastema
Broad eyebrow
Abnormality of the upper urinary tract
Onychauxis
Soft skin
Anodontia
Abdominal pain
Obesity
Blindness
Heat intolerance
Dysphagia
Optic atrophy
Cognitive impairment
Neoplasm
Long palm
Abnormality of the abdominal wall
Laryngeal stridor
Redundant neck skin
Abnormality of refraction
Postprandial hyperglycemia
Narrow palm
Female pseudohermaphroditism
Anterior hypopituitarism
Macrodontia
Polycystic ovaries
Anhidrotic ectodermal dysplasia
Poor suck
Narrow palate
Abnormality of the outer ear
Proteinuria
Loose anagen hair
Calcinosis
Broad fingertip
Abnormality of the nasal bridge
Blepharophimosis
Motor delay
Hyperlordosis
Feeding difficulties in infancy
Abnormality of the kidney
Muscular hypotonia of the trunk
Abnormality of the nervous system
Astigmatism
Aplasia/Hypoplasia of the clavicles
Neonatal hypotonia
Peripheral neuropathy
Conductive hearing impairment
Generalized lipodystrophy
Pes planus
Coarse facial features
Respiratory distress
Upslanted palpebral fissure
Constipation
Osteolytic defects of the distal phalanges of the hand
Hyperlipidemia
Abnormal location of ears
Acanthosis nigricans
Abdominal distention
Hypoplasia of the corpus callosum
Generalized hirsutism
Narrow face
Preauricular skin tag
Abnormality of the pulmonary artery
Wide anterior fontanel
Hypertrichosis
Epidermal acanthosis
Optic disc pallor
Dehydration
Everted upper lip vermilion
Single transverse palmar crease
Superior pectus carinatum
Periorbital wrinkles
Periorbital hyperpigmentation
Hydronephrosis
Postaxial polydactyly
Dermal translucency
Delayed puberty
Acroosteolysis of distal phalanges (feet)
Abnormality of the intervertebral disk
Abnormality of the hair
Hirsutism
Osteolysis
Reduced visual acuity
Anhidrosis
Cleft lip
Acute hepatic failure
Verrucae
Ulcerative colitis
Abnormality of the pulmonary vasculature
Abnormal adipose tissue morphology
Lower limb asymmetry
Bifid ureter
Ectopia cordis
Linear hyperpigmentation
Hypoplastic pelvis
Cholesteatoma
Duodenal atresia
Apocrine hidrocystoma
Diastasis recti
Labial hypoplasia
Giant cell tumor of bone
Midclavicular hypoplasia
Truncus arteriosus
Enlarged cisterna magna
Midclavicular aplasia
Myelomeningocele
Stenosis of the external auditory canal
Hypertension
Aplasia/Hypoplasia of the lungs
Everted lower lip vermilion
Foot polydactyly
Depressed nasal ridge
Abnormality of the larynx
Cholangitis
Aniridia
Absent toenail
Ridged fingernail
Absence of the sacrum
Patchy alopecia
Abnormal palmar dermatoglyphics
Abnormality of the mediastinum
Upper limb asymmetry
Cleft ala nasi
Reticular hyperpigmentation
Absent fingernail
Foot oligodactyly
Abnormality of the middle ear
Rough bone trabeculation
Osteopathia striata
Hypoplasia of teeth
Clitoral hypoplasia
Inspiratory stridor
Papilloma
Total anomalous pulmonary venous return
Abnormality of hair texture
Abnormal cornea morphology
Nonproductive cough
Hand oligodactyly
Ureteral duplication
Bifid nose
Skin nodule
Anomalous pulmonary venous return
Hypohidrosis
Short clavicles
Erythema
Short metacarpal
Short ribs
Spina bifida
Short phalanx of finger
Abnormality of epiphysis morphology
Telangiectasia
Subcutaneous nodule
Omphalocele
Renal hypoplasia
Interphalangeal joint contracture of finger
Congenital diaphragmatic hernia
Postaxial hand polydactyly
Overgrowth
Broad nasal tip
Horseshoe kidney
Absent eyebrow
Abnormality of skin pigmentation
Cleft upper lip
Caudal appendage
Pruritus
Papule
Microtia
Agenesis of permanent teeth
Sparse body hair
Cough
Camptodactyly of finger
Abnormal cardiac septum morphology
Pointed chin
Multicystic kidney dysplasia
Type I diabetes mellitus
Hypermelanotic macule
Oligodactyly
Sparse eyelashes
Facial cleft
Aplasia cutis congenita
Telangiectasia of the skin
Narrow nasal bridge
Vertebral fusion
Colitis
Palmoplantar hyperkeratosis
Macule
Mixed hearing impairment
Short finger
Supernumerary nipple
Spina bifida occulta
Open bite
Mild short stature
Anophthalmia
Stridor
Chorioretinal coloboma
Ectropion
Ectopia lentis
Hand polydactyly
Brittle hair
Short metatarsal
Reduced number of teeth
Recurrent skin infections
Renal hypoplasia/aplasia
Abnormality of the testis
Aplastic clavicle
Abnormally large globe
Abnormality of the zygomatic bone
Poor speech
Abnormality of the cerebral white matter
Short philtrum
Aggressive behavior
Anxiety
Autism
Long philtrum
Behavioral abnormality
Talipes equinovarus
Hyperreflexia
Spasticity
Hypoplastic facial bones
Arachnodactyly
Birth length less than 3rd percentile
Enlarged epiphyses
Rieger anomaly
Abnormality of the mandible
Narrow naris
Abnormal anterior chamber morphology
Excessive wrinkled skin
Dimple chin
Abnormal pupil morphology
Increased intraocular pressure
Posterior embryotoxon
Insulin-resistant diabetes mellitus
Talipes
Bulbous nose
Poor appetite
Tented upper lip vermilion
Excessive salivation
Generalized osteoporosis
Cleft soft palate
Conical tooth
Broad hallux phalanx
Short columella
Self-mutilation
Abnormality of the periventricular white matter
Restlessness
Myopathic facies
Bilateral talipes equinovarus
Overlapping toe
Drooling
Thick eyebrow
Microretrognathia
Long eyelashes
Broad thumb
Broad-based gait
Hemiparesis
Short palpebral fissure
Intellectual disability, profound
Decreased testicular size
Febrile seizures
Prominent nose
Sleep disturbance
Wide nose
Megalocornea
Abnormality of the immune system
Pes valgus
Toenail dysplasia
Hypoplasia of the maxilla
Recurrent fractures
Hypermetropia
Edema
Respiratory insufficiency
Adermatoglyphia
Premature loss of permanent teeth
Conical incisor
Lacrimal duct atresia
Nail pits
Fingernail dysplasia
Breast hypoplasia
Wormian bones
Sparse axillary hair
Generalized hypopigmentation
Fair hair
Alopecia of scalp
Melanocytic nevus
Conjunctivitis
Finger clinodactyly
Skin ulcer
Inflammatory abnormality of the skin
Cutaneous photosensitivity
Oral cleft
Anal atresia
Hypotelorism
Growth abnormality
Congenital glaucoma
Small for gestational age
Glucose intolerance
Radial deviation of finger
Lipodystrophy
Prominent supraorbital ridges
Opacification of the corneal stroma
Short chin
Decreased body weight
Bilateral sensorineural hearing impairment
Underdeveloped nasal alae
Triangular face
Hip dislocation
Neurological speech impairment
Deeply set eye
Cachexia
Glaucoma
Depressivity
Cataract
Thin calvarium
Narrow philtrum
Increased thyroid-stimulating hormone level
Osteolytic defects of the phalanges of the hand
Shallow orbits
Striae distensae
Slender long bone
Flat occiput
Pterygium
Overbite
Happy demeanor
Hypomagnesemia
Progressive sclerosis of skull base
Pulmonic stenosis
Dolichocephaly
Pectus carinatum
Craniosynostosis
Low-set, posteriorly rotated ears
Hypertrophic cardiomyopathy
Hypothyroidism
Pectus excavatum
Vomiting
Cardiomyopathy
Stiff finger
Lumbar kyphoscoliosis
Webbed neck
Exodeviation
Facial hyperostosis
Prominent scalp veins
Proximal symphalangism of hands
Proximal symphalangism
Broad clavicles
Calvarial hyperostosis
Absent axillary hair
Abnormality of the penis
Elbow ankylosis
Aplasia of the middle phalanx of the hand
Aplasia/Hypoplasia of the middle phalanges of the hand
Ichthyosis
Growth hormone deficiency
Cranial hyperostosis
Patent foramen ovale
Fragile nails
Abnormality of the elbow
Broad neck
Arnold-Chiari type I malformation
Atopic dermatitis
Natal tooth
Neurodevelopmental delay
Abnormality of coagulation
Right bundle branch block
Hypoplastic toenails
Overfolded helix
Failure to thrive in infancy
Nasal speech
Dandy-Walker malformation
Deep philtrum
Optic nerve hypoplasia
Infantile muscular hypotonia
Abnormal palate morphology
Abnormality of the fingernails
Hypocalcemia
Cafe-au-lait spot
Mitral regurgitation
Thick lower lip vermilion
Low posterior hairline
Ventricular hypertrophy
Cyanosis
Hyperconvex fingernails
Sclerosis of skull base
Toe clinodactyly
Facial palsy
Knee flexion contracture
Elbow flexion contracture
Increased bone mineral density
Short toe
Abnormality of the metaphysis
Choanal atresia
Specific learning disability
Hip dysplasia
Limitation of joint mobility
Bifid uvula
Macroglossia
Wide mouth
Intellectual disability, moderate
Cutaneous syndactyly
Cerebral cortical atrophy
Hypogonadism
Hypospadias
Kyphosis
Intellectual disability, mild
Narrow jaw
Conspicuously happy disposition
Narrow maxilla
Incomprehensible speech
Dacryocystitis
Large beaked nose
Median cleft palate
Cutis laxa
Abnormality of the metacarpal bones
Delayed eruption of permanent teeth
Hypoplastic fingernail
Abnormal nasolacrimal system morphology
Humeroradial synostosis
Epispadias
Diaphyseal thickening
Chordee
Femoral hernia
Hyperextensibility of the finger joints
Generalized osteosclerosis
Symphalangism affecting the phalanges of the hand
Abnormal cortical bone morphology
Prominent superficial veins
Broad ribs
Choanal stenosis
Redundant skin
Abnormality of finger
Osteopetrosis
Microglossia
Submucous cleft hard palate
Thickened calvaria
Absent septum pellucidum
Limited elbow extension
External genital hypoplasia
Flared metaphysis
Short middle phalanx of finger
Cutis marmorata
Hyperostosis
Abnormality of the fingertips
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