Brachydactyly, and Sparse and thin eyebrow
Diseases related with Brachydactyly and Sparse and thin eyebrow
In the following list you will find some of the most common rare diseases related to Brachydactyly and Sparse and thin eyebrow that can help you solving undiagnosed cases.
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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
Trichorhinophalangeal syndromes (TRPS) type 1 and 3 are malformation syndromes characterized by short stature, sparse hair, a bulbous nasal tip and cone-shaped epiphyses, as well as severe generalized shortening of all phalanges, metacarpals and metatarsal bones.
TRICHORHINOPHALANGEAL SYNDROME TYPE 1 AND 3 Is also known as sugio-kajii syndrome
Related symptoms:
- Intellectual disability
- Short stature
- Microcephaly
- Scoliosis
- Micrognathia
SOURCES:
ORPHANET
OMIM
MENDELIAN
More info about TRICHORHINOPHALANGEAL SYNDROME TYPE 1 AND 3
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Other less relevant matches:
Carpenter syndrome is a subtype of a family of genetic disorders known as acrocephalopolysyndactyly (ACPS) disorders.
CARPENTER SYNDROME Is also known as acrocephalopolysyndactyly type 2|acps2
Related symptoms:
- Intellectual disability
- Global developmental delay
- Hypertelorism
- Sensorineural hearing impairment
- Abnormal facial shape
SOURCES:
ORPHANET
OMIM
MENDELIAN
More info about CARPENTER SYNDROME
CHST3-related skeletal dysplasia is a very rare bone disorder characterized clinically by short stature of prenatal onset; dislocation of the knees, hips or elbows; club feet; limitation of range of motion of large joints; progressive kyphosis; and occasional scoliosis. In a few patients, minor heart valve dysplasia has also been described. Intellect, vision and hearing are normal.
CHST3-RELATED SKELETAL DYSPLASIA Is also known as chondrodysplasia with multiple dislocations|cdmd|humerospinal dysostosis|spondyloepiphyseal dysplasia with congenital joint dyslocations, chst3 type|sdcd, chst3 type|hsd|spondyloepiphyseal dysplasia, omani type|chondrodysplasia with congenital joint dislo
Related symptoms:
- Short stature
- Hearing impairment
- Scoliosis
- Hypertelorism
- Abnormal facial shape
SOURCES:
OMIM
ORPHANET
MENDELIAN
More info about CHST3-RELATED SKELETAL DYSPLASIA
Deletion 2q37 or monosomy 2q37 is a chromosomal anomaly involving deletion of chromosome band 2q37 and manifests as three major clinical findings: developmental delay, skeletal malformations and facial dysmorphism.
2Q37 MICRODELETION SYNDROME Is also known as albright hereditary osteodystrophy-like syndrome|del(2)(q37)|monosomy 2q37-qter|brachydactyly-intellectual disability syndrome|albright hereditary osteodystrophy type 3|brachydactyly-mental retardation syndrome|bdmr|deletion 2q37-qter|deletion 2q37
Related symptoms:
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
- Generalized hypotonia
SOURCES:
ORPHANET
MESH
OMIM
MENDELIAN
More info about 2Q37 MICRODELETION SYNDROME
15q24 microdeletion syndrome is a rare chromosomal anomaly characterized cytogenetically by a 1.7-6.1 Mb deletion in chromosome 15q24 and clinically by pre- and post-natal growth retardation, intellectual disability, distinct facial features, and genital, skeletal, and digital anomalies.
15Q24 MICRODELETION SYNDROME Is also known as monosomy 15q24|del(15)(q24)
Related symptoms:
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
- Generalized hypotonia
SOURCES:
MESH
ORPHANET
OMIM
MENDELIAN
More info about 15Q24 MICRODELETION SYNDROME
Microcephalic osteodysplastic primordial dwarfism (MOPD) types 1 and 3 are characterized by intrauterine and postnatal growth retardation, microcephaly, facial dysmorphism, skeletal dysplasia, low-birth weight and brain anomalies. Although MOPD types 1 and 3 were originally described as two separate entities on the basis of radiological criteria (notably small differences in pelvic and long bone structure), later reports confirmed that the two forms represent different modes of expression of the same syndrome.
MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM TYPES I AND III Is also known as microcephalic osteodysplastic primordial dwarfism, taybi-linder type|low-birth-weight dwarfism with skeletal dysplasia|mopd i|mopd types i and iii|osteodysplastic primordial dwarfism, type i|primordial microcephalic dwarfism, crachami type|mopd|cephaloske
Related symptoms:
- Intellectual disability
- Seizures
- Global developmental delay
- Generalized hypotonia
- Hearing impairment
SOURCES:
OMIM
ORPHANET
MENDELIAN
More info about MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM TYPES I AND III
Kabuki syndrome is a congenital mental retardation syndrome with additional features, including postnatal dwarfism, a peculiar facies characterized by long palpebral fissures with eversion of the lateral third of the lower eyelids (reminiscent of the make-up of actors of Kabuki, a Japanese traditional theatrical form), a broad and depressed nasal tip, large prominent earlobes, a cleft or high-arched palate, scoliosis, short fifth finger, persistence of fingerpads, radiographic abnormalities of the vertebrae, hands, and hip joints, and recurrent otitis media in infancy (Niikawa et al., 1981). Genetic HeterogeneityKabuki syndrome-2 (OMIM ) is caused by mutation in the KDM6A gene (OMIM ) on chromosome Xp11.3.
KABUKI SYNDROME 1; KABUK1 Is also known as kabuki syndrome|kabuki make-up syndrome|kms|niikawa-kuroki syndrome
Related symptoms:
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
- Generalized hypotonia
SOURCES:
OMIM
MENDELIAN
More info about KABUKI SYNDROME 1; KABUK1
Top 5 symptoms//phenotypes associated to Brachydactyly and Sparse and thin eyebrow
Symptoms // Phenotype |
% cases |
Intellectual disability |
Common - Between 50% and 80% cases
|
Abnormal facial shape |
Common - Between 50% and 80% cases
|
Global developmental delay |
Common - Between 50% and 80% cases
|
Short stature |
Common - Between 50% and 80% cases
|
High palate |
Common - Between 50% and 80% cases
|
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Other less frequent symptoms
Patients with Brachydactyly and Sparse and thin eyebrow. may also develop some of the following symptoms:
Common Symptoms - More than 50% cases
Microcephaly
Uncommon Symptoms - Between 30% and 50% cases
Hearing impairment
Common Symptoms - More than 50% cases
Anteverted nares
Uncommon Symptoms - Between 30% and 50% cases
Depressed nasal bridge
Common Symptoms - More than 50% cases
Muscular hypotonia
Uncommon Symptoms - Between 30% and 50% cases
Sparse hair
Common Symptoms - More than 50% cases
Scoliosis
Uncommon Symptoms - Between 30% and 50% cases
Pes planus
Hernia
Generalized hypotonia
Cryptorchidism
Highly arched eyebrow
Single transverse palmar crease
Micrognathia
Seizures
Growth delay
Atrial septal defect
Recurrent infections
Abnormality of cardiovascular system morphology
Obesity
Abnormality of the skeletal system
Upslanted palpebral fissure
Thick vermilion border
Epicanthus
Micropenis
Frontal bossing
Hypertelorism
Ventricular septal defect
Short metacarpal
Short neck
Bilateral single transverse palmar creases
Severe short stature
Short palm
Clinodactyly of the 5th finger
Macrotia
Posteriorly rotated ears
Postnatal growth retardation
Feeding difficulties in infancy
Long philtrum
Protruding ear
Sensorineural hearing impairment
Low-set ears
Hyperlordosis
Wide nasal bridge
Abnormality of the nervous system
Camptodactyly of finger
Thin upper lip vermilion
Underdeveloped nasal alae
Smooth philtrum
Intrauterine growth retardation
Brachycephaly
Clinodactyly
Ventriculomegaly
Congenital diaphragmatic hernia
Wide nose
Muscular hypotonia of the trunk
Polymicrogyria
Fine hair
Failure to thrive
Feeding difficulties
Strabismus
Abnormality of the kidney
Conductive hearing impairment
Abnormality of the pinna
Wide intermamillary distance
Coarctation of aorta
Toe syndactyly
Polydactyly
Delayed skeletal maturation
Hypoplasia of the corpus callosum
Small for gestational age
Talipes equinovarus
Hirsutism
Hypogonadism
Joint laxity
Dilatation
Downslanted palpebral fissures
Umbilical hernia
Retrognathia
Osteopenia
Coarse facial features
Short distal phalanx of finger
Sparse scalp hair
Cognitive impairment
Rare Symptoms - Less than 30% cases
Aortic valve stenosis
Hypothyroidism
Microdontia
Bowing of the long bones
Abnormal form of the vertebral bodies
Osteoporosis
Long face
Hydronephrosis
Telecanthus
Iris coloboma
Limb undergrowth
Autistic behavior
Delayed myelination
Growth hormone deficiency
Platyspondyly
Hip dislocation
Broad forehead
Widely spaced teeth
Small nail
Skeletal dysplasia
Blepharophimosis
Motor delay
Flexion contracture
Diaphragmatic eventration
Short thumb
Cafe-au-lait spot
Narrow face
Microtia
Narrow mouth
Elbow dislocation
Malar flattening
Sleep disturbance
Alopecia
Small hand
Macrocephaly
Hydroureter
Thin vermilion border
Joint hyperflexibility
Short chin
Attention deficit hyperactivity disorder
Inguinal hernia
Prominent forehead
Hyperactivity
Autism
Deeply set eye
Aggressive behavior
Abnormality of the urinary system
Anemia
Sparse eyebrow
Intellectual disability, severe
Talipes
Abnormality of the outer ear
Hypospadias
Immunodeficiency
Short nose
Intellectual disability, mild
Hypertonia
Short humerus
Heterotopia
Profound global developmental delay
Nystagmus
High anterior hairline
Prominent nose
Mitral stenosis
Overweight
Mild short stature
Cleft palate
Kyphosis
Poor suck
Hyperkeratosis
Finger syndactyly
Cutis laxa
Camptodactyly
Kyphoscoliosis
High forehead
Short foot
Joint hypermobility
Patent ductus arteriosus
Pectus excavatum
Genu valgum
Narrow forehead
Midface retrusion
Long palm
Short metatarsal
Thick lower lip vermilion
Sparse eyelashes
Dental crowding
Short phalanx of finger
Bulbous nose
Hypoglycemia
Astigmatism
Precocious puberty
Abnormality of the dentition
Dry skin
Bilateral cryptorchidism
Postaxial polydactyly
Ptosis
Cupped ear
Myopia
Transposition of the great arteries
Preaxial polydactyly
Coloboma
Narrow palate
Proptosis
Intestinal malrotation
Abnormality of the upper urinary tract
Pectus carinatum
Supernumerary nipple
Pachygyria
Abnormality of the metaphysis
Oligohydramnios
Cerebellar vermis hypoplasia
Coarse hair
Renal hypoplasia
Status epilepticus
Hypsarrhythmia
Sloping forehead
Elbow flexion contracture
Laryngeal stridor
Muscle stiffness
Nephrocalcinosis
Hypertrichosis
Thin skin
Wide anterior fontanel
Insulin resistance
Preauricular skin tag
Multiple joint contractures
Generalized hirsutism
Tetralogy of Fallot
Knee flexion contracture
Large hands
Rickets
Acanthosis nigricans
Abnormality of the metacarpal bones
Sacral dimple
Lissencephaly
Absence seizures
Diabetes insipidus
Metatarsus adductus
Specific learning disability
Diastema
Ovarian cyst
Thick nail
Long penis
Glaucoma
Agenesis of corpus callosum
Hypocholesterolemia
Advanced eruption of teeth
Cerebellar hypoplasia
Abnormality of the abdominal wall
Bilateral conductive hearing impairment
Broad eyebrow
Macrodontia
Cerebral atrophy
Respiratory insufficiency
Female pseudohermaphroditism
Fever
Narrow palm
Spasticity
Onychauxis
Respiratory failure
Dyspnea
Polycystic ovaries
Hypotrichosis
Premature birth
Bifid uvula
Renal cyst
Clitoral hypertrophy
Neonatal respiratory distress
Hyperglycemia
Postprandial hyperglycemia
Micromelia
Abnormality of the thyroid gland
Prematurely aged appearance
Furrowed tongue
Growth hormone excess
Dolichocephaly
Corneal opacity
Bell-shaped thorax
Ketoacidosis
Apnea
Progeroid facial appearance
Ovoid vertebral bodies
Rigidity
Abnormal lip morphology
Hypoplastic ilia
Prominent occiput
Celiac disease
Patellar dislocation
Vitiligo
Scaphocephaly
Hashimoto thyroiditis
Anal stenosis
Autoimmune thrombocytopenia
IgA deficiency
Thyroiditis
Congenital hypothyroidism
Autoimmune hemolytic anemia
Cerebellar vermis atrophy
Severe hearing impairment
Long palpebral fissure
Right bundle branch block
Depressed nasal tip
Bundle branch block
Preauricular pit
Brittle hair
Failure to thrive in infancy
Abnormal dermatoglyphics
Purpura
Hyperbilirubinemia
Horseshoe kidney
Congenital hip dislocation
Increased body weight
Abnormal vertebral morphology
Long eyelashes
Renal dysplasia
Recurrent otitis media
Short columella
Short 5th finger
Otitis media
Common atrium
Anoperineal fistula
Nocturnal lagophthalmos
Vertical orbital dystopia
Pilonidal sinus
Short nasal septum
Eversion of lateral third of lower eyelids
Premature thelarche
Prominent eyelashes
Liver abscess
Sclerosing cholangitis
Single ventricle
Crossed fused renal ectopia
Anorectal anomaly
Vertebral clefting
Retinal coloboma
Epibulbar dermoid
Abnormality of the middle ear
Recurrent aspiration pneumonia
Prominent fingertip pads
Biliary atresia
Bronchomalacia
Ureteropelvic junction obstruction
Recurrent ear infections
Anterior plagiocephaly
Trichorrhexis nodosa
Broad philtrum
Small face
Cholangitis
Optic nerve coloboma
Blue sclerae
Decreased antibody level in blood
Femoral bowing
Flat acetabular roof
Abnormally ossified vertebrae
Central hypothyroidism
Long clavicles
Aplastic clavicle
Tethered cord
Broad distal phalanx of finger
Thin eyebrow
Colpocephaly
Agenesis of cerebellar vermis
11 pairs of ribs
Abnormal cortical gyration
Short femur
Long foot
Abnormality of finger
Hypoplasia of the frontal lobes
Delayed epiphyseal ossification
Thickened nuchal skin fold
Arachnoid cyst
Severe intrauterine growth retardation
Epileptic spasms
Submucous cleft hard palate
Hip contracture
Osteomalacia
Broad palm
Disproportionate short stature
Prolonged neonatal jaundice
Partial agenesis of the corpus callosum
Long nose
Cortical gyral simplification
Abnormality of the intervertebral disk
Small anterior fontanelle
Dental malocclusion
Depressivity
Hypodontia
Hemolytic anemia
Anal atresia
Malabsorption
Autoimmunity
Abnormal cardiac septum morphology
Paralysis
Respiratory tract infection
Intellectual disability, moderate
Anxiety
Jaundice
Pneumonia
Abnormal heart morphology
Visual loss
Renal insufficiency
Aplasia/hypoplasia of the femur
Diarrhea
Bifid first metacarpal
Cleft vertebral arch
Absent knee epiphyses
Enlarged metaphyses
Bowed humerus
Bifid femur
Abnormality of the tragus
Shoulder flexion contracture
Abnormality of the pubic bone
Abnormality of the distal phalanx of finger
Loss of eyelashes
Abnormality of calcium-phosphate metabolism
Large iliac wings
Epidermal acanthosis
Sandal gap
Optic disc pallor
Waddling gait
Delayed gross motor development
Aortic regurgitation
Spina bifida occulta
Joint dislocation
Spina bifida
Rhizomelia
Mitral regurgitation
Ventricular hypertrophy
Pulmonary arterial hypertension
Lumbar hyperlordosis
Delayed eruption of teeth
Heart murmur
Thick eyebrow
Pulmonic stenosis
Arthritis
Arthralgia
Abnormal reproductive system morphology
Aplasia of the middle phalanx of the hand
Narrow naris
Abnormal cornea morphology
Oxycephaly
Cloverleaf skull
Preaxial foot polydactyly
Cubitus valgus
Tricuspid regurgitation
Abnormality of the skull
Abnormality of the elbow
Ulnar bowing
Flattened epiphysis
Hypoplasia of the capital femoral epiphysis
Coronal cleft vertebrae
Irregular epiphyses
Shield chest
Small epiphyses
Enlarged joints
Disproportionate short-trunk short stature
Short 4th metacarpal
Barrel-shaped chest
Thoracic kyphosis
Spondyloepiphyseal dysplasia
Irregular vertebral endplates
Arthropathy
Thin ribs
Vertebral fusion
Tibial bowing
Limited elbow extension
Short thorax
Short femoral neck
Hallux valgus
Bilateral talipes equinovarus
Hypoplasia of the ulna
Polysplenia
Turricephaly
Spinal deformities
Triangular face
Leukonychia
Avascular necrosis of the capital femoral epiphysis
Sparse lateral eyebrow
Fragile nails
Exostoses
Increased number of teeth
Short finger
Cone-shaped epiphysis
Convex nasal ridge
Redundant skin
Increased susceptibility to fractures
Aortic aneurysm
Pear-shaped nose
Premature ovarian insufficiency
High pitched voice
Prolonged bleeding time
Abnormality of the sternum
Palpebral edema
Abnormality of the vasculature
Generalized osteoporosis
Eclabion
Urethral stenosis
Irregular dentition
Infra-orbital fold
Long upper lip
Coxa magna
Shawl scrotum
Craniosynostosis
Hypoplastic nipples
Cutaneous finger syndactyly
External genital hypoplasia
Dextrocardia
Trigonocephaly
Coxa vara
Situs inversus totalis
Broad thumb
Postaxial hand polydactyly
Webbed neck
Ichthyosis
Bruising susceptibility
Accelerated bone age after puberty
Everted lower lip vermilion
Overgrowth
High myopia
Syndactyly
Decreased body weight
Bronchiectasis
Gingival overgrowth
Hypergonadotropic hypogonadism
Hyperextensible skin
Shortening of all phalanges of fingers
Cone-shaped epiphyses of the middle phalanges of the hand
Frontal upsweep of hair
Abnormality of the carpal bones
Dehydration
Nasal speech
Microphallus
Overlapping fingers
Thick upper lip vermilion
Insomnia
Abnormality of digit
Slender finger
Radial deviation of finger
Proximal placement of thumb
Abnormality of the thorax
Abnormality of the voice
Upper eyelid edema
Thick hair
Microretrognathia
Pointed chin
Hoarse voice
Abnormality of the genital system
Open mouth
Interphalangeal joint contracture of finger
Tapered finger
High, narrow palate
Arachnodactyly
Facial asymmetry
Hypermetropia
Intestinal atresia
Wide nasal base
Prominent nasal bridge
Peripheral neuropathy
Abdominal distention
Microcornea
Carious teeth
Proteinuria
Neonatal hypotonia
Gastroesophageal reflux
Mandibular prognathia
Diabetes mellitus
Constipation
Absent speech
Respiratory distress
Abnormality of the proximal phalanx of the thumb
Abnormality of nervous system morphology
Medial flaring of the eyebrow
Gastrointestinal atresia
Conspicuously happy disposition
Large fleshy ears
Dysplastic corpus callosum
Anisocoria
Flared nostrils
Toe clinodactyly
Deep plantar creases
Thick nasal alae
Unilateral cryptorchidism
Severe global developmental delay
Developmental regression
Decreased hip abduction
Deviation of the 5th finger
Broad nasal tip
Downturned corners of mouth
Anisopoikilocytosis
Scarring
Hyporeflexia
Arrhythmia
Behavioral abnormality
Hydrocephalus
Pain
Neoplasm
Fixed elbow flexion
Multiple carpal ossification centers
Eczema
Limited hip extension
Generalized bone demineralization
Intervertebral disc degeneration
Tricuspid stenosis
Anisospondyly
Intervertebral space narrowing
Narrow vertebral interpedicular distance
Sclerotic vertebral endplates
Shoulder dislocation
Multiple joint dislocation
Knee dislocation
Round face
Spotty hypopigmentation
Low-set, posteriorly rotated ears
Broad face
Polyhydramnios
Pes cavus
Microphthalmia
Hypopigmentation of the skin
Hypopigmented skin patches
Delayed speech and language development
Self-biting
Pain insensitivity
Abnormal aortic morphology
Broad columella
Subvalvular aortic stenosis
Renal neoplasm
Broad-based gait
Low hanging columella
Tracheomalacia
Obsessive-compulsive behavior
Self-injurious behavior
Nephroblastoma
Pyloric stenosis
Laryngomalacia
Narrow palpebral fissure
Multicystic kidney dysplasia
Short toe
Stereotypy
Congenital mitral stenosis
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