Brachydactyly, and Frontal bossing

Diseases related with Brachydactyly and Frontal bossing

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


Top matches:

Medium match ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE


Acromesomelic dysplasia, Maroteaux type is an autosomal recessively inherited form of acromesomelic dysplasia (see this term) characterized by severe dwarfism (adult height >120 cm), both axial and appendicular involvement (shortening of the middle and distal segments of limbs and vertebral shortening), and with normal facial appearance and intelligence. It is a less severe form than acromesomelic dysplasia, Grebe type and acromesomelic dysplasia, Hunter-Thomson type (see these terms).

Related symptoms:

  • Scoliosis
  • Depressed nasal bridge
  • Brachydactyly
  • Frontal bossing
  • Kyphosis


SOURCES: ORPHANET MENDELIAN

More info about ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE

Medium match CRANIOSYNOSTOSIS, BOSTON TYPE


Craniosynostosis, Boston type is a form of syndromic craniosynostosis, characterized by a highly variable craniosynostosis with frontal bossing, turribrachycephaly and cloverleaf skull anomaly. Hypoplasia of the supraorbital ridges, cleft palate, extra teeth and limb anomalies (triphalangeal thumb, 3-4 syndactyly of the hands, a short first metatarsal, middle phalangeal agenesis in the feet) have also been described. Associated problems include headache, poor vision, and seizures. Intelligence is normal.

CRANIOSYNOSTOSIS, BOSTON TYPE Is also known as csb|warman-mulliken-hayward syndrome|craniosynostosis, warman type|craniosynostosis, boston-type

Related symptoms:

  • Seizures
  • Brachydactyly
  • Myopia
  • Downslanted palpebral fissures
  • Frontal bossing


SOURCES: OMIM ORPHANET MENDELIAN

More info about CRANIOSYNOSTOSIS, BOSTON TYPE

Medium match ULNAR/FIBULA RAY DEFECT-BRACHYDACTYLY SYNDROME


Ulnar/fibula ray defect - brachydactyly syndrome is a very rare malformation syndrome characterized by ulnar hypoplasia associated with hypoplastic to absent fourth and/or fifth digits, fibular hypoplasia, short stature and facial dysmorphism.

ULNAR/FIBULA RAY DEFECT-BRACHYDACTYLY SYNDROME Is also known as morava-mehes syndrome

Related symptoms:

  • Short stature
  • Growth delay
  • Brachydactyly
  • Frontal bossing
  • Talipes equinovarus


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about ULNAR/FIBULA RAY DEFECT-BRACHYDACTYLY SYNDROME

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Other less relevant 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 FAMILIAL OSTEOCHONDRITIS DISSECANS


Familial osteochondritis dissecans is a rare genetic skeletal disorder characterized clinically by abnormal chondro-skeletal development, disproportionate short stature and skeletal deformation mainly affecting the knees, hips, ankles and elbows with onset generally in late childhood or adolescence.

FAMILIAL OSTEOCHONDRITIS DISSECANS Is also known as osteochondritis dissecans and short stature|od|osteochondritis dissecans, short stature, and early-onset osteoarthritis

Related symptoms:

  • Short stature
  • Abnormal facial shape
  • Pain
  • Depressed nasal bridge
  • Brachydactyly


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about FAMILIAL OSTEOCHONDRITIS DISSECANS

Medium match BRACHYDACTYLY TYPE E


Brachydactyly type E (BDE) is a congenital malformation of the digits characterized by variable shortening of the metacarpals with more or less normal length phalanges, although the terminal phalanges are often short.

BRACHYDACTYLY TYPE E Is also known as bde|brachydactyly, type e

Related symptoms:

  • Intellectual disability
  • Short stature
  • Ataxia
  • Nystagmus
  • Cataract


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about BRACHYDACTYLY TYPE E

Medium match ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE; AMDM


The Maroteaux type of mesomelic sysplasia is an autosomal recessive disorder characterized by severe dwarfism (height below 120 cm) with shortening of the middle and distal segments of the limbs. This condition is usually diagnosed at birth and becomes more obvious in the first 2 years of life. X-rays show short broad fingers, square flat feet, and shortening of the long bones (particularly the forearms). The radius is bowed; the ulna is shorter than the radius, and its distal end is occasionally hypoplastic. The skull is dolichocephalic and a shortness of the trunk, with decreased vertebral height and narrowing of the lumbar interpedicular distances, is consistently observed. Facial appearance and intelligence are normal (summary by Faivre et al., 2000).

ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE; AMDM Is also known as st. helena dysplasia

Related symptoms:

  • Brachydactyly
  • Frontal bossing
  • Short nose
  • Severe short stature
  • Prominent forehead


SOURCES: OMIM MENDELIAN

More info about ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE; AMDM

Medium match HOLOPROSENCEPHALY 7; HPE7


Holoprosencephaly (HPE) is the most commonly occurring congenital structural forebrain anomaly in humans. HPE is associated with mental retardation and craniofacial malformations. Considerable heterogeneity in the genetic causes of HPE has been demonstrated (Ming et al., 2002).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Hypertelorism


SOURCES: MESH OMIM MENDELIAN

More info about HOLOPROSENCEPHALY 7; HPE7

Medium match METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE


Schmid metaphyseal chondrodysplasia is a rare disorder characterized by moderately short stature with short limbs, coxa vara, bowlegs and an abnormal gait.

METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE Is also known as spondylometaphyseal dysplasia, japanese type

Related symptoms:

  • Short stature
  • Hearing impairment
  • Micrognathia
  • Brachydactyly
  • Frontal bossing


SOURCES: OMIM ORPHANET MENDELIAN

More info about METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE

Top 5 symptoms//phenotypes associated to Brachydactyly and Frontal bossing

Symptoms // Phenotype % cases
Short stature Uncommon - Between 30% and 50% cases
Midface retrusion Uncommon - Between 30% and 50% cases
Prominent forehead Uncommon - Between 30% and 50% cases
Severe short stature Uncommon - Between 30% and 50% cases
Disproportionate short stature Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Depressed nasal bridge Short distal phalanx of finger

Rare Symptoms - Less than 30% cases


Abnormal facial shape Round face Hypotelorism Micrognathia Waddling gait Femoral bowing Limited elbow extension Lumbar hyperlordosis Mild short stature Anteverted nares Growth abnormality Growth delay Short nose Intellectual disability Craniosynostosis Beaking of vertebral bodies Short metatarsal Hyperlordosis Joint stiffness Dolichocephaly Joint hyperflexibility Short metacarpal Bowing of the long bones Moderately short stature Talipes equinovarus Proptosis Ovoid vertebral bodies Macrocephaly Acromesomelia Seizures Microcephaly Global developmental delay Skeletal dysplasia High palate Epicanthus Cleft lip Wide nasal bridge Hydrocephalus Microphthalmia Agenesis of corpus callosum Upslanted palpebral fissure Macrotia Thin upper lip vermilion Redundant skin on fingers Protruding ear Hypertelorism Scoliosis Thoracolumbar interpediculate narrowness Short toe Multiple impacted teeth Type E brachydactyly Straight clavicles Aplasia/Hypoplasia of the distal phalanx of the hallux Pes planus Joint laxity Falls Short phalanx of finger Hypoplasia of the radius Lower thoracic kyphosis Flared metaphysis Cone-shaped epiphyses of the phalanges of the hand Radial bowing Long hallux Short nail Broad finger Broad metatarsal Broad phalanx Broad metacarpals Thoracolumbar kyphosis Flat occiput Broad forehead Irregular vertebral endplates Dilatation Platyspondyly Limb undergrowth Abnormality of the metaphysis Abnormality of epiphysis morphology Coxa vara Genu varum Hypercalcemia Short middle phalanx of finger Bowing of the legs Metaphyseal chondrodysplasia Flat nasal alae Spondylometaphyseal dysplasia Metaphyseal cupping Diaphyseal thickening Abnormality of bone mineral density Irregular acetabular roof Metaphyseal cupping of metacarpals Broad middle phalanx of finger Enlargement of the proximal femoral epiphysis Metaphyseal cupping of proximal phalanges Proximal femoral metaphyseal abnormality Hearing impairment Fusion of the left and right thalami Smooth philtrum Bilateral cleft lip Oral cleft Iris coloboma Highly arched eyebrow Prominent nose Dental malocclusion Omphalocele Holoprosencephaly Ectopic calcification Partial agenesis of the corpus callosum Median cleft lip Depressed nasal tip Absent nasal septal cartilage Bilateral cleft lip and palate Broad face Panhypopituitarism Bilateral microphthalmos Median cleft lip and palate Single median maxillary incisor Midline defect of the nose Parietal bossing Semilobar holoprosencephaly Alobar holoprosencephaly Hypoplasia of the premaxilla Upper limb asymmetry Proportionate short stature Pseudohypoparathyroidism Short 5th finger Unicoronal synostosis Atrial septal defect Malar flattening Toe syndactyly Short foot Hemangioma Bilateral talipes equinovarus Fibular hypoplasia Lower limb asymmetry Metopic synostosis Aplasia/Hypoplasia of the ulna Aplasia/Hypoplasia of the fibula Postaxial oligodactyly Unilateral ulnar hypoplasia Sensorineural hearing impairment Cleft palate Narrow chest Micromelia Premature birth Bicoronal synostosis Brachyturricephaly Rhizomelia Hypermetropia Kyphosis Abnormal form of the vertebral bodies Sprengel anomaly Vertebral wedging Myopia Downslanted palpebral fissures Headache Brachycephaly Narrow forehead Anterior plagiocephaly Wormian bones Trigonocephaly Triphalangeal thumb Visual field defect Increased number of teeth Turricephaly Coronal craniosynostosis Cleft soft palate Cloverleaf skull High myopia Metaphyseal widening Short clavicles Abnormality of the knee Osteoarthritis Short thumb Accelerated skeletal maturation Back pain Broad hallux Joint swelling Exostoses Abnormality of tibia morphology Low back pain Arthralgia Osteochondritis Dissecans Decreased hip abduction Limited elbow flexion Quadriceps muscle atrophy Abnormality of skeletal physiology Ataxia Nystagmus Cataract Joint hypermobility Arthritis Delayed skeletal maturation Glossoptosis Telecanthus Hypoplastic scapulae Short femur Upper airway obstruction Dumbbell-shaped long bone Anemia Recurrent infections High forehead Osteopenia Sparse hair Gait disturbance Small for gestational age Talipes Hypopigmentation of the skin Sparse and thin eyebrow Hypopigmented skin patches Profound global developmental delay Spotty hypopigmentation Anisopoikilocytosis Pain Distal tibial bowing



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