Frontal bossing, and Short palm

Diseases related with Frontal bossing and Short palm

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

Top matches:

Achondrogenesis type 1A (ACG1A), a form of achondrogenesis (see this term), is a very rare, lethal skeletal dysplasia characterized by dwarfism with extremely short limbs, narrow chest, short ribs that are easily fractured, soft skull bones and distinctive histological features of the cartilage.

ACHONDROGENESIS TYPE 1A Is also known as achondrogenesis, houston-harris type

Related symptoms:

  • Micrognathia
  • Macrocephaly
  • Frontal bossing
  • Anteverted nares
  • Short neck


SOURCES: ORPHANET MENDELIAN

More info about ACHONDROGENESIS TYPE 1A

Omodysplasia-2 (OMOD2) is a rare autosomal dominant skeletal dysplasia characterized by shortened humeri, shortened first metacarpal, and craniofacial dysmorphism. See also OMOD1 (OMIM ).

AUTOSOMAL DOMINANT OMODYSPLASIA Is also known as omodysplasia, autosomal dominant

Related symptoms:

  • Hypertelorism
  • Micrognathia
  • Cryptorchidism
  • Depressed nasal bridge
  • Frontal bossing


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about AUTOSOMAL DOMINANT OMODYSPLASIA

Multiple epiphyseal dysplasia due to collagen 9 anomaly is a rare primary bone dysplasia disorder characterized by normal or mild short stature, early-onset pain and/or stiffness of the joints (mainly affecting knees but also elbows, wrists, ankles and fingers, with relative sparing of the hips) and early degenerative joint disease. Other skeletal anomalies (incl. varus or valgus deformities, osteochondritis dissecans, abnormal carpal shape, free articular bodies) and mild myopathy have also been reported.

Related symptoms:

  • Short stature
  • Muscle weakness
  • Pain
  • Depressed nasal bridge
  • Gait disturbance


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about MULTIPLE EPIPHYSEAL DYSPLASIA DUE TO COLLAGEN 9 ANOMALY

Other less relevant matches:

X-linked dominant chondrodysplasia Chassaing-Lacombe type is a rare genetic bone disorder characterized by chondrodysplasia, intrauterine growth retardation (IUGR), hydrocephaly and facial dysmorphism in the affected males.

X-LINKED DOMINANT CHONDRODYSPLASIA, CHASSAING-LACOMBE TYPE Is also known as x-linked dominant chondrodysplasia-hydrocephaly-microphthalmia syndrome

Related symptoms:

  • Intellectual disability
  • Short stature
  • Growth delay
  • Micrognathia
  • Low-set ears


SOURCES: OMIM ORPHANET MENDELIAN

More info about X-LINKED DOMINANT CHONDRODYSPLASIA, CHASSAING-LACOMBE TYPE

Short rib-polydactyly syndrome, Verma-Naumoff type is a short rib-polydactyly syndrome characterized by short limb dwarfism, short ribs with thoracic dysplasia, postaxial polydactyly and protuberant abdomen. Associated multiple malformations include cardiovascular defects, renal agenesis /hypoplasia, abnormal cloacal development (ambiguous genitalia, anal atresia) and cerebellar hypoplasia. Short rib-polydactyly syndrome, Verma-Naumoff type follows an autosomal recessive mode of transmission. The disease is usually fatal in the perinatal period.

SHORT RIB-POLYDACTYLY SYNDROME, VERMA-NAUMOFF TYPE Is also known as short rib-polydactyly syndrome type 3

Related symptoms:

  • Micrognathia
  • Cataract
  • Cryptorchidism
  • Depressed nasal bridge
  • Epicanthus


SOURCES: ORPHANET MENDELIAN

More info about SHORT RIB-POLYDACTYLY SYNDROME, VERMA-NAUMOFF TYPE

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

Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome is a rare, genetic primary bone dysplasia disorder characterized by disproportionate short stature with shortening of upper and lower limbs, short and broad fingers with short hands, narrowed chest with rib abnormalities and pectus excavatum, abnormal chondral calcifications (incl. larynx, trachea and costal cartilages) and facial dysmorphism (frontal bossing, hypertelorism, prominent eyes, short flat nose, wide nostrils, high-arched palate, long philtrum). Platyspondyly (esp. of cervical spine) and abnormal epiphyses and metaphyses are observed on radiography. Atlantoaxial instability causing spinal compression and recurrent respiratory disease are potential complications that may result lethal.

SPONDYLOEPIMETAPHYSEAL DYSPLASIA-SHORT LIMB-ABNORMAL CALCIFICATION SYNDROME Is also known as smed, short limb-hand type|smed, type ii|smed-sl|smed, short limb-abnormal calcification type|smed-sl/ac|spondylometaepiphyseal dysplasia, short limb-abnormal calcification type

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Hypertelorism


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about SPONDYLOEPIMETAPHYSEAL DYSPLASIA-SHORT LIMB-ABNORMAL CALCIFICATION SYNDROME

Sanjad-Sakati syndrome (SSS), also known as hypoparathyroidism - intellectual disability-dysmorphism, is a rare multiple congenital anomaly syndrome, mainly occurring in the Middle East and the Arabian Gulf countries, characterized by intrauterine growth restriction at birth, microcephaly, congenital hypoparathyroidism (that can cause hypocalcemic tetany or seizures in infancy), severe growth retardation, typical facial features (long narrow face, deep-set eyes, beaked nose, floppy and large ears, long philtrum, thin lips and micrognathia), and mild to moderate intellectual deficiency. Ocular findings (i.e. nanophthalmos, retinal vascular tortuosity and corneal opacification/clouding) and superior mesenteric artery syndrome have also been reported. Although SSS shares the same locus with the autosomal recessive form of Kenny-Caffey syndrome (see this term), the latter differs from SSS by its normal intelligence and skeletal features.

SANJAD-SAKATI SYNDROME Is also known as richardson-kirk syndrome|hrd syndrome|sanjad-sakati syndrome|hypoparathyroidism-intellectual disability-dysmorphism syndrome|hypoparathyroidism, congenital, associated with dysmorphism, growth retardation, and developmental delay|sss|hypoparathyroidism wi

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about SANJAD-SAKATI SYNDROME

Osteoglophonic dwarfism (OGD) is characterized by dwarfism, severe craniofacial abnormalities and multiple unerupted teeth.

OSTEOGLOSPHONIC DYSPLASIA Is also known as osteoglophonic dwarfism

Related symptoms:

  • Intellectual disability
  • Scoliosis
  • Hypertelorism
  • Failure to thrive
  • Micrognathia


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about OSTEOGLOSPHONIC DYSPLASIA

High match OPSISMODYSPLASIA

Opsismodysplasia is a skeletal dysplasia characterized by congenital dwarfism and facial dysmorphism.

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Hypertelorism
  • Muscular hypotonia
  • Depressed nasal bridge


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about OPSISMODYSPLASIA

Top 5 symptoms//phenotypes associated to Frontal bossing and Short palm

Symptoms // Phenotype % cases
Micrognathia Common - Between 50% and 80% cases
Long philtrum Common - Between 50% and 80% cases
Short foot Common - Between 50% and 80% cases
Depressed nasal bridge Common - Between 50% and 80% cases
Short nose Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Short stature

Uncommon Symptoms - Between 30% and 50% cases

Severe short stature Disproportionate short-limb short stature Micromelia Macrocephaly Short metacarpal Rhizomelia Delayed skeletal maturation Cryptorchidism Hypertelorism Narrow chest Platyspondyly Intellectual disability High palate Brachydactyly Scoliosis Hypoplasia of penis Low-set ears Muscular hypotonia Malar flattening Anteverted nares Generalized hypotonia Short neck Limb undergrowth Short phalanx of finger

Rare Symptoms - Less than 30% cases

Convex nasal ridge Ventriculomegaly Short ribs Abnormality of the metaphysis Respiratory insufficiency Recurrent pneumonia Severe platyspondyly Wide mouth Cerebellar hypoplasia Microphthalmia Intrauterine growth retardation Growth delay Small hand Pectus excavatum Microcephaly Recurrent respiratory infections Posterior rib cupping Short metatarsal Abnormality of epiphysis morphology Broad metacarpals Failure to thrive Protruding ear Thin upper lip vermilion Midface retrusion Broad phalanx Anterior rib cupping Spondyloepimetaphyseal dysplasia Bell-shaped thorax Abnormality of the dentition Global developmental delay Hypophosphatemia Short long bone Hypospadias Abdominal distention Lethal skeletal dysplasia Micropenis Skeletal dysplasia Myopathy Ambiguous genitalia Abnormality of the skeletal system Hydrops fetalis Short thorax Polyhydramnios Renal phosphate wasting Abnormality of cardiovascular system morphology Flat occiput Abnormal calcification of the carpal bones Triangular shaped distal phalanges of the hand Progressive calcification of costochondral cartilage Seizures Muscular hypotonia of the trunk Deeply set eye Abnormal facial shape Hypoplasia of the corpus callosum Wide anterior fontanel Relative macrocephaly Posteriorly rotated ears Blue sclerae Prominent forehead Hypogonadism Broad thumb High forehead Metaphyseal irregularity Prominent supraorbital ridges Large fontanelles Chordee Small foramen magnum Protuberant abdomen Flared iliac wings Thoracic hypoplasia Restrictive ventilatory defect Hypoplasia of the odontoid process Abnormally ossified vertebrae Hypoplastic pubic bone Syringomyelia Vertebral hypoplasia Epiphyseal stippling Spinal cord compression Abnormality of the neck Hypoplastic vertebral bodies Tracheal calcification Hip subluxation Hypoplastic ischia Metaphyseal cupping Atlantoaxial instability Long fibula Calcification of falx cerebri C1-C2 subluxation Flat acetabular roof Postnatal growth retardation Delayed epiphyseal ossification Low-set, posteriorly rotated ears Small for gestational age Corneal opacity Pseudoarthrosis Depressivity Flared metaphysis Mandibular prognathia Craniosynostosis Hepatomegaly Choanal atresia Abnormal form of the vertebral bodies Multiple unerupted teeth Unerupted tooth Bowing of the long bones Plagiocephaly Broad metatarsal Downslanted palpebral fissures Abnormal bone ossification Abnormality of the nasopharynx Reduced number of teeth Increased susceptibility to fractures Failure to thrive in infancy Hypoplastic toenails Broad palm Shallow orbits Broad foot Abnormality of the clavicle Hypoplastic scapulae Cloverleaf skull Respiratory distress Edema Nasal obstruction Spinal canal stenosis Astigmatism Thin vermilion border Tapered finger Bifid uvula Delayed myelination Joint stiffness Growth hormone deficiency Respiratory tract infection Hypocalcemia Recurrent bacterial infections Abnormality of dental enamel Intestinal obstruction External ear malformation Delayed speech and language development Severe intrauterine growth retardation Hypoparathyroidism Hyperphosphatemia Decreased circulating cortisol level Respiratory failure Splenomegaly Tetany Aplasia/Hypoplasia affecting the eye Cellular immunodeficiency Hypocalcemic seizures Congenital hypoparathyroidism Patchy osteosclerosis Inguinal hernia Underdeveloped nasal alae Bowing of the legs Knee osteoarthritis Hip dysplasia Osteoarthritis Genu varum Epiphyseal dysplasia Mild short stature Abnormal joint morphology Multiple epiphyseal dysplasia Irregular epiphyses Small epiphyses Hypoplasia of the capital femoral epiphysis Osteochondritis Dissecans Flattened epiphysis Ankle pain Limitation of joint mobility Hydrocephalus Intellectual disability, mild Hyperkeratosis Short philtrum Depressed nasal ridge Thin ribs Hypoplastic iliac wing Decreased skull ossification 11 pairs of ribs Metaphyseal chondrodysplasia Metaphyseal cupping of metacarpals Distal shortening of limbs Waddling gait Hypodontia Metaphyseal cupping of proximal phalanges Dislocated radial head Umbilical hernia Flat face Recurrent fractures Cystic hygroma Thickened nuchal skin fold Aplasia/Hypoplasia of the lungs Femoral hernia Abnormal enchondral ossification Multiple rib fractures Hypoplasia of the maxilla Elbow dislocation Bifid scrotum Short humerus Genu valgum Patellar dislocation Short 1st metacarpal Large forehead Bifid nasal tip Rhizomelic arm shortening Hypoplastic distal humeri Limited elbow flexion/extension Muscle weakness Pain Gait disturbance Arthralgia Proximal muscle weakness Abnormality of the calcaneus Hypoplasia of the calcaneus Metatarsus adductus Fragile nails Pectus carinatum Smooth philtrum Bulbous nose Short distal phalanx of finger Triangular face Dental crowding Sparse and thin eyebrow Sparse eyelashes Cone-shaped epiphysis Short finger Increased number of teeth Exostoses Sparse lateral eyebrow Sparse hair Avascular necrosis of the capital femoral epiphysis Leukonychia Long upper lip Pear-shaped nose Coxa magna Accelerated bone age after puberty Cone-shaped epiphyses of the middle phalanges of the hand Shortening of all phalanges of fingers Wide nasal bridge Proptosis Elbow flexion contracture Knee flexion contracture Camptodactyly of finger Hyperlordosis Cataract Preaxial hand polydactyly Epicanthus Agenesis of corpus callosum Hydronephrosis Anal atresia Cleft upper lip Pulmonary hypoplasia Wide nose Renal cyst Dandy-Walker malformation Postaxial hand polydactyly Renal hypoplasia Omphalocele Facial cleft Abnormality of the nervous system Esophageal atresia Ectopic anus Bifid tongue Congenital hepatic fibrosis Uterus didelphys Bifid epiglottis Absent or minimally ossified vertebral bodies Abnormal pelvis bone ossification Urethrovaginal fistula Clinodactyly of the 5th finger Macrotia Osteopenia Squared iliac bones


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