Macrocephaly, and Dolichocephaly

Diseases related with Macrocephaly and Dolichocephaly

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


Top matches:

High match MENTAL RETARDATION, X-LINKED 72; MRX72


Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Macrocephaly
  • Obesity


SOURCES: OMIM MESH MENDELIAN

More info about MENTAL RETARDATION, X-LINKED 72; MRX72

High match TRICHO-DENTO-OSSEOUS SYNDROME


Tricho-dento-osseous dysplasia (TDO) belongs to the ectodermal dysplasias and is characterised by curly/kinky hair at birth, enamel hypoplasia with discolouration and molar taurodontism, increased overall bone mineral density (BMD) and increased thickness of the cortical bones of the skull.

TRICHO-DENTO-OSSEOUS SYNDROME Is also known as tdo syndrome

Related symptoms:

  • Macrocephaly
  • Frontal bossing
  • Skeletal dysplasia
  • Dolichocephaly
  • Carious teeth


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about TRICHO-DENTO-OSSEOUS SYNDROME

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

Mendelian

Too many results?
We can help you with your rare disease diagnosis.

Learn more

Other less relevant matches:

High match SHORT-RIB THORACIC DYSPLASIA 19 WITH OR WITHOUT POLYDACTYLY; SRTD19


Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by Huber and Cormier-Daire, 2012 and Schmidts et al., 2013).There is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, {218330}).For a discussion of genetic heterogeneity of short-rib thoracic dysplasia with or without polydactyly, see SRTD1 (OMIM ).

Related symptoms:

  • Generalized hypotonia
  • Low-set ears
  • Brachydactyly
  • Ventricular septal defect
  • Respiratory insufficiency


SOURCES: OMIM MENDELIAN

More info about SHORT-RIB THORACIC DYSPLASIA 19 WITH OR WITHOUT POLYDACTYLY; SRTD19

High match MACROCEPHALY/MEGALENCEPHALY SYNDROME, AUTOSOMAL RECESSIVE; MGCPH


Macrocephaly refers to an abnormally enlarged head inclusive of the scalp, cranial bones, and intracranial contents. Macrocephaly may be due to megalencephaly (true enlargement of the brain parenchyma), and the 2 terms are often used interchangeably in the genetic literature (reviews by Olney, 2007 and Williams et al., 2008). Autosomal recessive macrocephaly/megalencephaly syndrome is characterized by an enlarged cranium apparent at birth or in early childhood. Affected individuals have intellectual disability and may have dysmorphic facial features resulting from the macrocephaly (summary by Alfaiz et al., 2014).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Abnormal facial shape
  • Cognitive impairment


SOURCES: MESH OMIM MENDELIAN

More info about MACROCEPHALY/MEGALENCEPHALY SYNDROME, AUTOSOMAL RECESSIVE; MGCPH

High match MACROCEPHALY-DEVELOPMENTAL DELAY SYNDROME


Macrocephaly-developmental delay syndrome is a rare, intellectual disability syndrome characterized by macrocephaly, mild dysmorphic features (frontal bossing, long face, hooded eye lids with small, downslanting palpebral fissures, broad nasal bridge, and prominent chin), global neurodevelopmental delay, behavioral abnormalities (e.g. anxiety, stereotyped movements) and absence or generalized tonic-clonic seizures. Additional features reported in some patients include craniosynostosis, fifth finger clinodactyly, recurrent pneumonia, and hepatosplenomegaly.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • High palate


SOURCES: ORPHANET OMIM MENDELIAN

More info about MACROCEPHALY-DEVELOPMENTAL DELAY SYNDROME

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 COMBINED D-2- AND L-2-HYDROXYGLUTARIC ACIDURIA; D2L2AD


Combined D-2- and L-2-hydroxyglutaric aciduria (D-2-HG and L-2-HG) is an autosomal recessive neurometabolic disorder characterized by neonatal-onset encephalopathy with severe muscular weakness, intractable seizures, respiratory distress, and lack of psychomotor development resulting in early death. Brain imaging shows abnormalities including enlarged ventricles, delayed myelination, and germinal layer cysts (summary by Muntau et al., 2000).See also isolated L-2-hydroxyglutaric aciduria (OMIM ) and isolated D-2-hydroxyglutaric aciduria (see {600721}).

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Neoplasm


SOURCES: ORPHANET OMIM MENDELIAN

More info about COMBINED D-2- AND L-2-HYDROXYGLUTARIC ACIDURIA; D2L2AD

High match HOLOPROSENCEPHALY 5; HPE5


Holoprosencephaly associated with mutations in the ZIC2 gene.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Microcephaly
  • Hypertelorism
  • Abnormal facial shape


SOURCES: OMIM MESH MENDELIAN

More info about HOLOPROSENCEPHALY 5; HPE5

High match SCHNECKENBECKEN DYSPLASIA


Schneckenbecken dysplasia (or chondrodysplasia with snail-like pelvis) is a prenatally lethal spondylodysplastic dysplasia.

SCHNECKENBECKEN DYSPLASIA Is also known as chondrodysplasia with snail-like pelvis|slc35d1-cdg|chondrodysplasia, lethal neonatal, with snail-like pelvis

Related symptoms:

  • Cleft palate
  • Cryptorchidism
  • Brachydactyly
  • Macrocephaly
  • Short neck


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about SCHNECKENBECKEN DYSPLASIA

Top 5 symptoms//phenotypes associated to Macrocephaly and Dolichocephaly

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Midface retrusion Uncommon - Between 30% and 50% cases
Scaphocephaly Uncommon - Between 30% and 50% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Seizures Mandibular prognathia Abnormal facial shape Clinodactyly Frontal bossing High palate

Rare Symptoms - Less than 30% cases


Respiratory insufficiency Cleft palate Brachydactyly Low-set ears Broad forehead Respiratory distress Micromelia Prominent forehead Respiratory failure Narrow chest Oral cleft Microcephaly Short ribs Relative macrocephaly Prominent occiput Hypoplastic ilia Lateral clavicle hook Delayed speech and language development Hydrocephalus Craniosynostosis Trigonocephaly Astigmatism Stereotypy Proptosis Upslanted palpebral fissure Ventriculomegaly Skeletal dysplasia Hypertelorism Hepatomegaly Agenesis of corpus callosum Microphthalmia Cerebellar hypoplasia Macrotia Coloboma Hypermetropia Encephalopathy Short nose Dystonia Synophrys Feeding difficulties Microcornea Narrow forehead Muscle weakness Dyspnea Stridor Apnea Depressed nasal bridge Poor eye contact Inspiratory stridor D-2-hydroxyglutaric aciduria Apathy L-2-hydroxyglutaric aciduria Ptosis Poor suck Optic nerve hypoplasia Irritability Severe muscular hypotonia Cerebral visual impairment Abnormality of the skeletal system Postnatal microcephaly Anteverted nares Aciduria Delayed myelination Intellectual disability, severe Proboscis Hypotelorism Diaphyseal thickening Disproportionate short-limb short stature Metaphyseal irregularity Hypoplastic toenails Fibular hypoplasia Hypoplastic scapulae Flat acetabular roof Ovoid vertebral bodies Vertebral hypoplasia Abnormality of the fingernails Hypoplastic vertebral bodies Anterior rib cupping Advanced ossification of carpal bones Severe hydrops fetalis Dumbbell-shaped long bone Unossified vertebral bodies Advanced tarsal ossification Increased fibular diameter Accelerated skeletal maturation Spontaneous abortion Exotropia Exencephaly Holoprosencephaly Deep philtrum Absent thumb Abnormality of digit Facial cleft Single median maxillary incisor Cyclopia Small posterior fossa Cryptorchidism Lymphedema Short neck Edema Malar flattening Severe short stature Polyhydramnios Platyspondyly Abnormality of the metaphysis Abnormal form of the vertebral bodies Neoplasm Microretrognathia Interstitial pneumonitis Syndactyly Hypoplasia of the maxilla Open bite Shallow orbits Broad hallux phalanx Craniofacial dysostosis Ventricular septal defect Long philtrum Polydactyly High forehead Cleft lip Pulmonary hypoplasia Postaxial polydactyly Hypoplasia of the radius Thoracic hypoplasia Thoracic dysplasia Horizontal ribs Toe syndactyly Intellectual disability, mild Myopia Abnormality of the hair Obesity Hyperactivity Autism Long face Carious teeth Microdontia Hypoplasia of dental enamel Increased bone mineral density Obliteration of the calvarial diploe Widely spaced teeth Thickened calvaria Curly hair Amelogenesis imperfecta Taurodontia Fragile nails Dry hair Abnormality of the mastoid Cognitive impairment Optic atrophy Chronic lung disease Autoimmunity Failure to thrive Diarrhea Splenomegaly Posteriorly rotated ears Diabetes mellitus Hypothyroidism Camptodactyly Malabsorption Recurrent pneumonia Asthma Hepatitis Abnormal lung morphology Chronic diarrhea Type I diabetes mellitus Short chin Abnormal intestine morphology Finger clinodactyly Broad nasal tip Depressivity Patellar subluxation Coarse facial features Psychosis Pointed chin Celiac disease Abnormality of the musculature Patellar dislocation Megalencephaly Cortical tubers Aggressive behavior Adrenal medullary hypoplasia Wide nasal bridge Downslanted palpebral fissures Clinodactyly of the 5th finger Pneumonia Retrognathia Hepatosplenomegaly Anxiety Snail-like ilia



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Microphthalmia and Joint hypermobility, related diseases and genetic alterations Rod-cone dystrophy and Spina bifida, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more