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.


Top matches:

Medium match SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES


Related symptoms:

  • Global developmental delay
  • Microcephaly
  • Growth delay
  • Abnormal facial shape
  • Anemia


SOURCES: OMIM MENDELIAN

More info about SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES

Medium 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

Medium match TRICHORHINOPHALANGEAL SYNDROME TYPE 1 AND 3


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:

Medium match CARPENTER SYNDROME


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

Medium match CHST3-RELATED SKELETAL DYSPLASIA


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

Medium match 2Q37 MICRODELETION SYNDROME


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

Medium match 15Q24 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

Medium match KAUFMAN OCULOCEREBROFACIAL SYNDROME; KOS


KAUFMAN OCULOCEREBROFACIAL SYNDROME; KOS Is also known as blepharophimosis-ptosis-intellectual disability syndrome|bpids

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about KAUFMAN OCULOCEREBROFACIAL SYNDROME; KOS

Medium match MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM TYPES I AND III


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

Medium match KABUKI SYNDROME 1; KABUK1


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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