Macrocephaly, and Pectus excavatum

Diseases related with Macrocephaly and Pectus excavatum

In the following list you will find some of the most common rare diseases related to Macrocephaly and Pectus excavatum that can help you solving undiagnosed cases.

Top matches:

Related symptoms:

  • Intellectual disability
  • Scoliosis
  • High palate
  • Macrocephaly
  • Frontal bossing


SOURCES: OMIM MESH MENDELIAN

More info about MENTAL RETARDATION, X-LINKED, SYNDROMIC 14; MRXS14

MENTAL RETARDATION, X-LINKED 93; MRX93 Is also known as mental retardation, x-linked, with macrocephaly

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Muscular hypotonia
  • Cryptorchidism
  • Delayed speech and language development


SOURCES: OMIM MESH MENDELIAN

More info about MENTAL RETARDATION, X-LINKED 93; MRX93

Osteogenesis imperfecta is a connective tissue disorder characterized clinically by bone fragility and increased susceptibility to fractures. Osteogenesis imperfecta type IX is a severe autosomal recessive form of the disorder (summary by van Dijk et al., 2009).

OSTEOGENESIS IMPERFECTA, TYPE IX; OI9 Is also known as oi, type ix

Related symptoms:

  • Scoliosis
  • Growth delay
  • Macrocephaly
  • Kyphosis
  • Pectus excavatum


SOURCES: MESH OMIM MENDELIAN

More info about OSTEOGENESIS IMPERFECTA, TYPE IX; OI9

Other less relevant matches:

Related symptoms:

  • Short stature
  • Hypertelorism
  • High palate
  • Motor delay
  • Macrocephaly


SOURCES: OMIM MENDELIAN

More info about COLE-CARPENTER SYNDROME 2; CLCRP2

Multiple epiphyseal dysplasia, Al-Gazali type is a skeletal dysplasia characterized by multiple epiphyseal dysplasia (see this term), macrocephaly and facial dysmorphism.

MULTIPLE EPIPHYSEAL DYSPLASIA, AL-GAZALI TYPE Is also known as multiple epiphyseal dysplasia-macrocephaly-distinctive facies syndrome|macrocephaly with multiple epiphyseal dysplasia and distinctive facies|mmedf

Related symptoms:

  • Hypertelorism
  • Abnormal facial shape
  • Low-set ears
  • Motor delay
  • Macrocephaly


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about MULTIPLE EPIPHYSEAL DYSPLASIA, AL-GAZALI TYPE

SOTOS SYNDROME 2; SOTOS2 Is also known as malan syndrome

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Scoliosis
  • Nystagmus
  • Strabismus


SOURCES: OMIM MENDELIAN

More info about SOTOS SYNDROME 2; SOTOS2

Osteogenesis imperfecta type V is a moderate type of osteogenesis imperfecta (OI; see this term), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures with variable severity. OI type V is characterized by mild to moderate short stature, dislocation of the radial head, mineralized interosseous membranes, hyperplasic callus, white sclera and no dentinogenesis imperfecta (DI; see this term).

OSTEOGENESIS IMPERFECTA TYPE 5 Is also known as oi type 5|oi, type v

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis
  • Macrocephaly


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about OSTEOGENESIS IMPERFECTA TYPE 5

Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome is a developmental anomalies syndrome characterized by coloboma of the iris and optic nerve, facial dysmorphism (high forehead, microretrognathia, low-set ears), intellectual deficit, agenesis of the corpus callosum (ACC), sensorineural hearing loss, skeletal anomalies and short stature.

CORPUS CALLOSUM AGENESIS-INTELLECTUAL DISABILITY-COLOBOMA-MICROGNATHIA SYNDROME Is also known as mental retardation, x-linked, syndromic 28|graham-cox syndrome|mrxs28

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Scoliosis
  • Nystagmus


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about CORPUS CALLOSUM AGENESIS-INTELLECTUAL DISABILITY-COLOBOMA-MICROGNATHIA SYNDROME

Noonan syndrome is an autosomal dominant dysmorphic syndrome characterized primarily by dysmorphic facial features, cardiac abnormalities, and short stature, among other features (summary by Shah et al., 1999).For a phenotypic description and a discussion of genetic heterogeneity of Noonan syndrome, see NS1 (OMIM ), which is caused by mutations in the PTPN11 gene (OMIM ). Approximately 50% of cases of Noonan syndrome are caused by mutations in PTPN11.

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hypertelorism
  • Strabismus
  • Abnormal facial shape


SOURCES: OMIM MESH MENDELIAN

More info about NOONAN SYNDROME 3; NS3

Acrocapitofemoral dysplasia is a recently delineated skeletal dysplasia, characterized clinically by short stature of variable degrees with short limbs, brachydactyly and narrow thorax.

Related symptoms:

  • Short stature
  • Scoliosis
  • Brachydactyly
  • Macrocephaly
  • Pectus excavatum


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about ACROCAPITOFEMORAL DYSPLASIA

Top 5 symptoms//phenotypes associated to Macrocephaly and Pectus excavatum

Symptoms // Phenotype % cases
Scoliosis Common - Between 50% and 80% cases
Short stature Uncommon - Between 30% and 50% cases
Frontal bossing Uncommon - Between 30% and 50% cases
Pectus carinatum Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Macrocephaly and Pectus excavatum. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Kyphosis Downslanted palpebral fissures High palate Generalized hypotonia Motor delay Hypertelorism Wormian bones Blue sclerae Recurrent fractures Low-set ears Triangular face Long face Mandibular prognathia

Rare Symptoms - Less than 30% cases

Platyspondyly Narrow chest Disproportionate short-limb short stature Increased susceptibility to fractures Dentinogenesis imperfecta Nystagmus Strabismus Prominent nasal bridge Intellectual disability, mild Prominent forehead Ventriculomegaly Narrow mouth Midface retrusion High forehead Osteopenia Retrognathia Polyhydramnios Craniosynostosis Rhizomelia Agenesis of corpus callosum Ventricular septal defect Joint hypermobility Abnormality of the sternum Patent ductus arteriosus Relative macrocephaly Narrow face Limb undergrowth Delayed speech and language development Short neck Pes planus Hyperlordosis Abnormal facial shape Cupped ear Hearing impairment Leukemia Scaphocephaly Deep philtrum Dolichocephaly Mitral valve prolapse Pterygium Webbed neck Pulmonic stenosis Cystic hygroma Ptosis Hypertrophic cardiomyopathy Choanal atresia Hyperplastic callus formation Sensorineural hearing impairment Cleft palate Visual impairment Abnormality of the pinna Coloboma Iris coloboma Broad neck Posteriorly rotated ears Optic nerve coloboma Global developmental delay Myeloproliferative disorder Cognitive impairment Epicanthus Anteverted nares Atrial septal defect Short nose Sagittal craniosynostosis Hypoplasia of the radius Hypoplastic nasal bridge Broad nail Hypoplastic iliac wing Ovoid vertebral bodies Short femur Flared iliac wings Delayed ossification of carpal bones Short proximal phalanx of finger Cupped ribs Cone-shaped metacarpal epiphyses Short humerus Short proximal phalanx of thumb Enlargement of the distal femoral epiphysis Abnormality of the femoral neck Cone-shaped capital femoral epiphysis Fibular overgrowth Dysplasia of the femoral head Premature epimetaphyseal fusion Cone-shaped epiphysis of the 1st metacarpal Short tibia Disproportionate short stature Juvenile myelomonocytic leukemia Short metacarpal Atrial septal dilatation Dysplastic pulmonary valve Brachydactyly Delayed skeletal maturation Skeletal dysplasia Micromelia Short palm Short distal phalanx of finger Lumbar hyperlordosis Short femoral neck Small nail Short ribs Coxa vara Genu varum Dense metaphyseal bands Cone-shaped epiphysis Hypoplasia of the ulna Short thorax Anterior radial head dislocation Everted lower lip vermilion Thin calvarium Microretrognathia Multiple prenatal fractures Bowing of limbs due to multiple fractures Hydrocephalus Proptosis Postnatal growth retardation Oligohydramnios Reduced bone mineral density Wide anterior fontanel High pitched voice Thin ribs Turricephaly Coronal craniosynostosis Decreased skull ossification Lambdoidal craniosynostosis Narrow iliac wings Femoral bowing Kyphoscoliosis Malar flattening Long foot Intellectual disability, severe Arachnodactyly Hypoplasia of the maxilla Growth abnormality Nasal speech Abnormality of the musculature Slender build Osteoporosis Muscular hypotonia Cryptorchidism Macrotia Protruding ear Tall stature Pointed chin Growth delay Fractures of the long bones Obesity Limited pronation/supination of forearm Broad forehead Long fingers Advanced eruption of teeth Abnormality of the dentition Abnormality of metabolism/homeostasis Thin upper lip vermilion Abnormality of the eye Round face Accelerated skeletal maturation Abnormality of pelvic girdle bone morphology Mixed hearing impairment Dislocated radial head Barrel-shaped chest Vertebral compression fractures Biconcave vertebral bodies Vertebral wedging Cutis marmorata Coxa valga Clinodactyly Lymphedema Inguinal hernia Finger syndactyly Hip dislocation Genu valgum Brain atrophy Osteoarthritis Abnormality of epiphysis morphology Joint dislocation Overgrowth Epiphyseal dysplasia Molar tooth sign on MRI Multiple epiphyseal dysplasia Enlarged joints Anxiety Hypermetropia Astigmatism Small finger


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