Macrocephaly, and Proptosis

Diseases related with Macrocephaly and Proptosis

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


Top matches:

High match FAMILIAL SCAPHOCEPHALY SYNDROME, MCGILLIVRAY TYPE


Familial scaphocephaly syndrome, McGillivray type is a rare newly described craniosynostosis (see this term) syndrome characterized by scaphocephaly, macrocephaly, severe maxillary retrusion, and mild intellectual disability.

FAMILIAL SCAPHOCEPHALY SYNDROME, MCGILLIVRAY TYPE Is also known as scaphocephaly-macrocephaly-maxillary retrusion-intellectual disability syndrome

Related symptoms:

  • Intellectual disability
  • Hypertelorism
  • High palate
  • Macrocephaly
  • Ventriculomegaly


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about FAMILIAL SCAPHOCEPHALY SYNDROME, MCGILLIVRAY TYPE

High match MENTAL RETARDATION, AUTOSOMAL DOMINANT 51; MRD51


Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 51; MRD51

High match COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS; COMMAD


Related symptoms:

  • Generalized hypotonia
  • Hearing impairment
  • Micrognathia
  • Sensorineural hearing impairment
  • Cataract


SOURCES: OMIM MENDELIAN

More info about COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS; COMMAD

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Other less relevant matches:

High match COLE-CARPENTER SYNDROME 2; CLCRP2


Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about COLE-CARPENTER SYNDROME 2; CLCRP2

High match CARDIOFACIOCUTANEOUS SYNDROME 2; CFC2


Cardiofaciocutaneous (CFC) syndrome is a multiple congenital anomaly disorder characterized by a distinctive facial appearance, heart defects, and mental retardation (summary by Niihori et al., 2006). In a phenotypic comparison of BRAF (OMIM )-positive and KRAS-positive individuals with CFC, Niihori et al. (2006) observed that patients with KRAS mutations did not have the skin abnormalities, such as ichthyosis, hyperkeratosis, and hemangioma, that were present in patients with BRAF mutation.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hypertelorism
  • Ptosis


SOURCES: OMIM MENDELIAN

More info about CARDIOFACIOCUTANEOUS SYNDROME 2; CFC2

High match SYNDROMIC MULTISYSTEM AUTOIMMUNE DISEASE DUE TO ITCH DEFICIENCY


Syndromic multisystem autoimmune disease due to Itch deficiency is a rare, genetic, systemic autoimmune disease characterized by failure to thrive, global developmental delay, distictive craniofacial dysmorphism (relative macrocephaly, dolichocephaly, frontal bossing, orbital proptosis, flattened midface with a prominent occiput, low, posteriorly rotated ears, micrognatia), hepato- and/or splenomegaly, and multisystemic autoimmune disease involving the lungs, liver, gut and/or thyroid gland.

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive
  • Abnormal facial shape
  • Low-set ears


SOURCES: OMIM ORPHANET MENDELIAN

More info about SYNDROMIC MULTISYSTEM AUTOIMMUNE DISEASE DUE TO ITCH DEFICIENCY

High match MEESTER-LOEYS SYNDROME; MRLS


Related symptoms:

  • Hypertelorism
  • Abnormal facial shape
  • Flexion contracture
  • Macrocephaly
  • Downslanted palpebral fissures


SOURCES: OMIM MENDELIAN

More info about MEESTER-LOEYS SYNDROME; MRLS

High match FAMILIAL LAMBDOID SYNOSTOSIS


Familial lambdoid synostosis is a rare, genetic cranial malformation characterized by unilateral or bilateral synostosis of the lambdoid suture in multiple members of a single family. Unilateral cases typically present ipsilateral occipitomastoid bulge, compensatory contralateral parietal and frontal bossing, displacement of one ear, lateral deviation of jaw and compensatory deformation of cervical spine while bilateral cases usually manifest with flat and widened occiput, displacement of both ears and frequent occurrence of raised intracranial pressure.

Related symptoms:

  • Intellectual disability
  • Hypertelorism
  • Muscular hypotonia
  • Spasticity
  • Low-set ears


SOURCES: OMIM ORPHANET MENDELIAN

More info about FAMILIAL LAMBDOID SYNOSTOSIS

High match MACROCEPHALY, DYSMORPHIC FACIES, AND PSYCHOMOTOR RETARDATION; MDFPMR


Macrocephaly, dysmorphic facies, and psychomotor retardation (MDFPMR) is an autosomal recessive neurodevelopmental disorder characterized by large head and somatic overgrowth apparent at birth followed by global developmental delay. Affected individuals have characteristic dysmorphic facial features and persistently large head, but increased birth weight normalizes with age. Additional neurologic features, including seizures, hypotonia, and gait ataxia, may also occur. Patients show severe intellectual impairment (summary by Ortega-Recalde et al., 2015).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis


SOURCES: OMIM MENDELIAN

More info about MACROCEPHALY, DYSMORPHIC FACIES, AND PSYCHOMOTOR RETARDATION; MDFPMR

High match 5P13 MICRODUPLICATION SYNDROME


5p13 microduplication syndrome is a rare partial autosomal trisomy/tetrasomy characterized by global developmental delay, intellectual disability, autistic behavior, muscular hypotonia, macrocephaly and facial dysmorphism (frontal bossing, short palpebral fissures, low set, dysplastic ears, short or shallow philtrum, high arched or narrow palate, micrognathia). Other associated clinical features include sleep disturbances, seizures, aplasia/hypoplasia of the corpus callosum, skeletal abnormalities (large hands and feet, long fingers and toes, talipes).

5P13 MICRODUPLICATION SYNDROME Is also known as dup(5)(p13)|trisomy 5p13

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about 5P13 MICRODUPLICATION SYNDROME

Top 5 symptoms//phenotypes associated to Macrocephaly and Proptosis

Symptoms // Phenotype % cases
Frontal bossing Common - Between 50% and 80% cases
Hypertelorism Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Posteriorly rotated ears Uncommon - Between 30% and 50% cases
Low-set ears Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Abnormal facial shape Generalized hypotonia Global developmental delay Ventriculomegaly High palate Craniosynostosis Downslanted palpebral fissures High forehead Upslanted palpebral fissure Hydrocephalus Malar flattening Delayed speech and language development Midface retrusion Seizures

Rare Symptoms - Less than 30% cases


Turricephaly Arachnodactyly Microretrognathia Platyspondyly Retrognathia Kyphosis Short stature Large hands Lambdoidal craniosynostosis Anteverted nares Pes planus Myopia Scoliosis Long foot Sparse hair Broad forehead Sparse eyebrow Blepharophimosis Prominent forehead Camptodactyly Muscular hypotonia Relative macrocephaly Long fingers Triangular face Telecanthus Dolichocephaly Motor delay Epicanthus Shallow orbits Absent speech Facial asymmetry Tall stature Micrognathia Craniofacial dysostosis Mandibular prognathia Abnormality of the sternum Gingival overgrowth Plagiocephaly Increased intracranial pressure Optic nerve hypoplasia Flat occiput External ear malformation Mitral regurgitation Downturned corners of mouth Obsessive-compulsive behavior Arnold-Chiari type I malformation Anterior plagiocephaly Stomatocytosis Dimple chin Ectopic posterior pituitary Prominent scalp veins Small hand Hypotelorism Aortic aneurysm Cervical spine instability Striae distensae Aortic regurgitation Dilatation of the cerebral artery Aortic dissection Pulmonary artery aneurysm Joint dislocation Exotropia Protruding ear Spasticity Depressed nasal bridge Hypertonia Round ear Short nose Short palpebral fissure Low posterior hairline Stereotypy Pansynostosis Narrow forehead Strabismus Abnormal cerebellum morphology Brachycephaly Overgrowth High myopia Lumbar hyperlordosis Agenesis of corpus callosum Wide nasal bridge Disproportionate tall stature Long face Severe expressive language delay Megalencephaly Thick corpus callosum Communicating hydrocephalus Slender build Metopic synostosis Expressive language delay Bifid uvula Short philtrum Diminished ability to concentrate Cerebellar hypoplasia Long neck Posterior plagiocephaly Sleep disturbance Ataxia Cognitive impairment Cerebellar atrophy Bulbous nose Cerebral cortical atrophy Prominent nasal bridge Gait ataxia Macrotia Kyphoscoliosis Astigmatism Difficulty walking Joint laxity Hyperlordosis Small for gestational age Hypertrichosis Diabetes mellitus Joint hypermobility Osteopenia Preauricular pit Albinism Premature graying of hair Osteopetrosis Blue irides Generalized hypopigmentation Pectus excavatum Postnatal growth retardation Microcornea Recurrent fractures Oligohydramnios Blue sclerae Wormian bones Reduced bone mineral density High pitched voice Thin ribs Coronal craniosynostosis Congenital sensorineural hearing impairment Congenital cataract Narrow iliac wings Immunodeficiency Intellectual disability, mild Toe syndactyly Hypoplasia of the maxilla Trigonocephaly Open bite Scaphocephaly Broad hallux phalanx Cryptorchidism Autism Coloboma Autistic behavior Microtia Abnormality of the foot Febrile seizures Hearing impairment Sensorineural hearing impairment Cataract Microphthalmia Decreased skull ossification Fractures of the long bones Hip dislocation Chronic diarrhea Clinodactyly Respiratory failure Hypothyroidism Autoimmunity Malabsorption Asthma Hepatitis Abnormal lung morphology Type I diabetes mellitus Diarrhea Short chin Abnormal intestine morphology Prominent occiput Chronic lung disease Interstitial pneumonitis Flexion contracture Dilatation Skeletal dysplasia Splenomegaly Hepatomegaly Ptosis Peripheral axonal neuropathy Peripheral neuropathy Short neck Cardiomyopathy Atrial septal defect Hyperkeratosis Coarse facial features Low-set, posteriorly rotated ears Pulmonic stenosis Ichthyosis Failure to thrive Mitral valve prolapse Fine hair Hemangioma Bilateral ptosis Absent eyebrow Curly hair Arthropathy Neuropathic arthropathy Overweight



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Intellectual disability, severe and Situs inversus totalis, related diseases and genetic alterations Macrocephaly and Downturned corners of mouth, related diseases and genetic alterations

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