Frontal bossing, and Short metacarpal

Diseases related with Frontal bossing and Short metacarpal

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

Top matches:

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

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

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

Other less relevant matches:

Brachydactyly-short stature-retinitis pigmentosa syndrome is a rare, genetic, congenital limb malformation syndrome characterized by mild to severe short stature, brachydactyly, and retinal degeneration (usually retinitis pigmentosa), associated with variable intellectual disability, develomental delays, and craniofacial anomalies.

BRACHYDACTYLY-SHORT STATURE-RETINITIS PIGMENTOSA SYNDROME Is also known as metaphyseal chondrodysplasia with retinitis pigmentosa

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Micrognathia
  • Low-set ears


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about BRACHYDACTYLY-SHORT STATURE-RETINITIS PIGMENTOSA SYNDROME

SHORT STATURE-BRACHYDACTYLY-OBESITY-GLOBAL DEVELOPMENTAL DELAY SYNDROME Is also known as sbidds

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about SHORT STATURE-BRACHYDACTYLY-OBESITY-GLOBAL DEVELOPMENTAL DELAY SYNDROME

Autosomal dominant anomaly characterized by abnormal ovoid shape GRANULOCYTE nuclei and their clumping chromatin. Mutations in the LAMIN B receptor gene that results in reduced protein levels are associated with the disorder. Heterozygote individuals are healthy with normal granulocyte function while homozygote individuals occasionally have skeletal anomalies, developmental delay, and seizures.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hypertelorism
  • Failure to thrive
  • Strabismus


SOURCES: OMIM MESH MENDELIAN

More info about PELGER-HUET ANOMALY; PHA

Crouzon syndrome with acanthosis nigricans (CAN) is a very rare, clinically heterogeneous form of faciocraniostenosis with Crouzon-like features and premature synostosis of cranial sutures (Crouzon disease, see this term), associated with acanthosis nigricans (AN; see this term).

CROUZON SYNDROME-ACANTHOSIS NIGRICANS SYNDROME Is also known as crouzon-dermoskeletal syndrome|crouzonodermoskeletal syndrome

Related symptoms:

  • Short stature
  • Hypertelorism
  • Failure to thrive
  • Strabismus
  • Cleft palate


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about CROUZON SYNDROME-ACANTHOSIS NIGRICANS SYNDROME

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

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

15q13.3 microdeletion (microdel15q13.3) syndrome is characterized by a wide spectrum of neurodevelopmental disorders with no or subtle dysmorphic features.

15Q13.3 MICRODELETION SYNDROME Is also known as del(15)(q13.3)|chromosome 15q13.3 microdeletion syndrome|monosomy 15q13.3

Related symptoms:

  • Seizures
  • Schizophrenia
  • Bipolar affective disorder


SOURCES: MESH MENDELIAN

More info about 15Q13.3 MICRODELETION SYNDROME

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

Symptoms // Phenotype % cases
Brachydactyly Common - Between 50% and 80% cases
Hypertelorism Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Depressed nasal bridge Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Malar flattening Skeletal dysplasia Macrocephaly Severe short stature Long philtrum Short nose Short metatarsal Short neck Short foot Delayed speech and language development Failure to thrive Anteverted nares Global developmental delay Micrognathia Downslanted palpebral fissures Short palm Disproportionate short-limb short stature Cryptorchidism Rhizomelia Strabismus Craniosynostosis

Rare Symptoms - Less than 30% cases

Prominent forehead Edema Cloverleaf skull Generalized hypotonia Short phalanx of finger Laryngomalacia Renal phosphate wasting Limb undergrowth Hypophosphatemia Ptosis Ventricular septal defect Broad metatarsal Broad phalanx High palate Broad metacarpals Delayed skeletal maturation Respiratory insufficiency Seizures Feeding difficulties Low-set ears Platyspondyly Choanal atresia Abnormality of the skeletal system Abnormal form of the vertebral bodies Ectopic calcification Pseudohypoparathyroidism Hypospadias Hypoplasia of the maxilla Midface retrusion Short distal phalanx of finger Proptosis Migraine Nevus Hypopigmentation of the skin Dry skin Conductive hearing impairment High forehead Polyhydramnios Brachycephaly Recurrent respiratory infections Respiratory failure Convex nasal ridge Posteriorly rotated ears Renal insufficiency Respiratory tract infection Joint stiffness Dental malocclusion Melanocytic nevus Pectus excavatum Arnold-Chiari malformation Turricephaly Glomerulonephritis Choanal stenosis Increased intracranial pressure Abnormality of the metacarpal bones Inflammatory abnormality of the eye Craniofacial dysostosis Abnormal sacrum morphology Brachyturricephaly Epidermal acanthosis Bicoronal synostosis Membranous nephropathy Abnormal palate morphology Short uvula Acanthosis nigricans Muscular hypotonia Hepatomegaly Splenomegaly Proportionate short stature Aplasia/Hypoplasia of the cerebellum Wide anterior fontanel Wide mouth Broad palm Respiratory distress Depressivity Inguinal hernia Mandibular prognathia Protruding ear Bowing of the long bones Plagiocephaly Reduced number of teeth Increased susceptibility to fractures Failure to thrive in infancy Hypoplastic toenails Shallow orbits Posterior rib cupping Broad foot Abnormality of the clavicle Hypoplastic scapulae Spondyloepimetaphyseal dysplasia Nasal obstruction Chordee Abnormality of the nasopharynx Abnormal bone ossification Pseudoarthrosis Unerupted tooth Multiple unerupted teeth Schizophrenia Scoliosis Severe platyspondyly Narrow chest Prominent supraorbital ridges Micromelia Small hand Tapered finger Blue sclerae Abnormality of the metaphysis Broad thumb Large fontanelles Abnormality of epiphysis morphology Recurrent pneumonia Short long bone Relative macrocephaly Metaphyseal irregularity Squared iliac bones Flat occiput Protuberant abdomen Bell-shaped thorax Delayed epiphyseal ossification Flat acetabular roof Metaphyseal cupping Hypoplastic ischia Hypoplastic vertebral bodies Vertebral hypoplasia Anterior rib cupping Hypoplastic pubic bone Abnormally ossified vertebrae Hydrocephalus Umbilical hernia Optic atrophy Cone-shaped epiphyses of the phalanges of the hand Pes planus Joint laxity Falls Lumbar hyperlordosis Short toe Hypoplasia of the radius Growth abnormality Flared metaphysis Limited elbow extension Disproportionate short stature Radial bowing Straight clavicles Beaking of vertebral bodies Ovoid vertebral bodies Thoracolumbar kyphosis Long hallux Short nail Broad finger Acromesomelia Lower thoracic kyphosis Thoracolumbar interpediculate narrowness Redundant skin on fingers Blindness Aplasia/Hypoplasia of the distal phalanx of the hallux Type E brachydactyly Macrotia Bifid nasal tip Micropenis Ambiguous genitalia Hypoplasia of penis Elbow dislocation Bifid scrotum Dislocated radial head Short humerus Patellar dislocation Short 1st metacarpal Large forehead Rhizomelic arm shortening Multiple impacted teeth Hypoplastic distal humeri Limited elbow flexion/extension Ataxia Nystagmus Cataract Joint hyperflexibility Joint hypermobility Round face Short clavicles Upper limb asymmetry Moderately short stature Rod-cone dystrophy Intellectual disability, moderate Visual impairment Lower limb hyperreflexia Pes cavus Polydactyly Leukemia Generalized tonic-clonic seizures Neutropenia Eczema Recurrent otitis media Gingival overgrowth Foot dorsiflexor weakness Mild short stature Acute lymphoblastic leukemia Kyphosis Upper limb undergrowth Short 4th metacarpal Abnormality of chromosome segregation Short 5th metacarpal Lower limb hypertonia Giant platelets Median cleft palate Folate deficiency Hyposegmentation of neutrophil nuclei Short 3rd metacarpal Cleft palate Thrombocytopenia Abnormality of the dentition Nyctalopia Intrauterine growth retardation Retinal degeneration Renal cyst Underdeveloped nasal alae Small nail Horseshoe kidney Congenital blindness Metaphyseal chondrodysplasia Microcephaly Growth delay Epicanthus Wide nasal bridge Obesity Frontal hirsutism Retrognathia Deeply set eye Severe global developmental delay Astigmatism Thin vermilion border Broad nasal tip Delayed myelination Short palpebral fissure Delayed ability to walk Underdeveloped supraorbital ridges Infra-orbital crease Bipolar affective disorder


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