Macrocephaly, and Dental crowding

Diseases related with Macrocephaly and Dental crowding

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

Top matches:

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 31; EIEE31

Auriculocondylar syndrome (ARCND), also known as 'question-mark ear syndrome' or 'dysgnathia complex,' is an autosomal dominant craniofacial malformation syndrome characterized by highly variable mandibular anomalies, including mild to severe micrognathia, often with temporomandibular joint ankylosis, cleft palate, and a distinctive ear malformation that consists of separation of the lobule from the external ear, giving the appearance of a question mark. Other frequently described features include prominent cheeks, cupped and posteriorly rotated ears, preauricular tags, and microstomia (summary by Rieder et al., 2012).For a discussion of genetic heterogeneity of auriculocondylar syndrome, see ARCND1 (OMIM ).

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Micrognathia
  • Cleft palate


SOURCES: OMIM MENDELIAN

More info about AURICULOCONDYLAR SYNDROME 2; ARCND2

Auriculo-condylar syndrome (ACS) presents with bilateral external ear malformations ('question mark' ears), mandibular condyle hypoplasia, microstomia, micrognathia, microglossia and facial asymmetry. Additional manifestations include hypotonia, ptosis, cleft palate, puffy cheeks, developmental delay, impaired hearing and respiratory distress.

AURICULOCONDYLAR SYNDROME Is also known as question mark ear syndrome|question mark ears syndrome

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Micrognathia
  • Sensorineural hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about AURICULOCONDYLAR SYNDROME

Other less relevant matches:

This form of nonsyndromic X-linked mental retardation is characterized by a spectrum of cognitive neurologic impairments or disabilities ranging from moderate mental retardation to high-functioning autism. Males are typically severely affected, but some carrier females may manifest milder deficits (summary by Piton et al., 2008).

MENTAL RETARDATION, X-LINKED 21; MRX21 Is also known as mental retardation, x-linked 34|mrx34

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Generalized hypotonia
  • Hypertelorism


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, X-LINKED 21; MRX21

Robinow syndrome is a skeletal dysplasia characterized by distinctive facial features, including midface hypoplasia, hypertelorism, a short nose, and a broad mouth, known collectively as 'fetal facies.' Additional features include mesomelic dwarfism, macrocephaly, gingival hypertrophy, dental malocclusion, genital hypoplasia, and brachydactyly (summary by Bunn et al., 2015). Additionally, increased skull bone density and appendicular osteosclerosis are present in patients with DRS2 (White et al., 2015; Bunn et al., 2015).For a discussion of genetic heterogeneity of Robinow syndrome, see RRS (OMIM ).

Related symptoms:

  • Short stature
  • Hearing impairment
  • Hypertelorism
  • Micrognathia
  • Sensorineural hearing impairment


SOURCES: OMIM MENDELIAN

More info about ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2; DRS2

Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome is a rare, genetic, central nervous system malformation syndrome characterized by early-onset, progressive, severe cerebellar ataxia associated with progressive, moderate to severe intellecutal disability, global developmental delay, progressively coarsening facial features, relative macrocephaly and absence of seizures. Sensorineural hearing loss may be associated. Neuroimaging reveals cerebellar atrophy/hypoplasia.

INTELLECTUAL DISABILITY-COARSE FACE-MACROCEPHALY-CEREBELLAR HYPOTROPHY SYNDROME Is also known as intellectual disability-coarse face-macrocephaly-cerebellar hypoplasia syndrome|scar20|autosomal recessive spinocerebellar ataxia type 20

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about INTELLECTUAL DISABILITY-COARSE FACE-MACROCEPHALY-CEREBELLAR HYPOTROPHY SYNDROME

High match ACHONDROPLASIA

Achondroplasia is the most common form of chondrodysplasia, characterized by rhizomelia, exaggerated lumbar lordosis, brachydactyly, and macrocephaly with frontal bossing and midface hypoplasia.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Muscular hypotonia
  • Depressed nasal bridge


SOURCES: ORPHANET OMIM MENDELIAN

More info about ACHONDROPLASIA

Macrocephaly-intellectual disability-left ventricular non compaction syndrome is a rare, genetic, syndromic intellectual disability characterized by motor and cognitive developmental delay with language impairment, macrocephaly, hypotonia, dysmorphic facial features (including long face, slanting palpebral fissures and prominent, flattened nose) and left ventricular noncompaction cardiomyopathy. Patients also present skeletal abnormalities (e.g. scoliosis, finger clinodactyly, pes planus), slender build and shy behavior. Strabismus and various neurological signs (including ataxia, tremor and hyperreflexia) may be associated, as well as epilepsy, autism and MRI findings showing a small cerebellum and abnormalities of the corpus callosum. A phenotypic variant with no cardiac involvement has been reported.

MACROCEPHALY-INTELLECTUAL DISABILITY-LEFT VENTRICULAR NON COMPACTION SYNDROME Is also known as mrxsml|mental retardation, x-linked, syndromic, mircsof-langouet type

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about MACROCEPHALY-INTELLECTUAL DISABILITY-LEFT VENTRICULAR NON COMPACTION SYNDROME

Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome is a rare, genetic, primary bone dysplasia disorder characterized by severe pre- and post-natal short stature, facial dysmorphism (incl.dolicocephaly, long triangular face, tall forehead, down-slanting palpebral fissures, prominent nose, long philtrum, small ears), early-onset or postpubertal sparse, short hair and hypoplastic fingernails. Small hands with tapering fingers, bracydactyly and fifth-finger clinodactyly, as well as a high-pitched voice are also associated.

SHORT STATURE-ONYCHODYSPLASIA-FACIAL DYSMORPHISM-HYPOTRICHOSIS SYNDROME Is also known as soft syndrome

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Microcephaly
  • Growth delay


SOURCES: OMIM ORPHANET MENDELIAN

More info about SHORT STATURE-ONYCHODYSPLASIA-FACIAL DYSMORPHISM-HYPOTRICHOSIS SYNDROME

The Lujan-Fryns syndrome or X-linked mental retardation (XLMR) with marfanoid habitus syndrome is a syndromic X-linked form of intellectual disability, associated with tall, marfanoid stature, distinct facial dysmorphism and behavioral problems.

X-LINKED INTELLECTUAL DISABILITY WITH MARFANOID HABITUS Is also known as lujan syndrome|mental retardation, x-linked, with marfanoid habitus|lujan-fryns syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY WITH MARFANOID HABITUS

Top 5 symptoms//phenotypes associated to Macrocephaly and Dental crowding

Symptoms // Phenotype % cases
Generalized hypotonia Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Brachydactyly Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Low-set ears Frontal bossing Anteverted nares Dental malocclusion Hearing impairment Micrognathia Short stature Clinodactyly Ankylosis Posteriorly rotated ears Cleft palate Long face Sensorineural hearing impairment Prominent forehead Feeding difficulties Narrow mouth Autism Scoliosis Open mouth Hypertelorism Apnea Thick vermilion border Short nose High palate Relative macrocephaly Abnormal facial shape Depressed nasal bridge Strabismus Abnormality of the dentition Long philtrum Midface retrusion Gingival overgrowth Severe short stature Wide mouth High forehead

Rare Symptoms - Less than 30% cases

Cerebellar hypoplasia Obesity Chronic otitis media Intellectual disability, mild Camptodactyly Kyphoscoliosis Short distal phalanx of finger Limb undergrowth Widely spaced teeth Pectus excavatum Prominent nose Short philtrum Nasal speech Mandibular prognathia Upslanted palpebral fissure Hyperactivity Conductive hearing impairment Cryptorchidism Thin upper lip vermilion Coarse facial features Autistic behavior Mesomelia Thickened calvaria Short palm Growth delay Broad nasal tip Ataxia Obstructive sleep apnea Abnormality of the skeletal system Macroorchidism Joint laxity Aggressive behavior Respiratory distress Malar flattening Glossoptosis Cupped ear Poor suck Preauricular skin tag Round face Low-set, posteriorly rotated ears Neonatal hypotonia Gastroesophageal reflux Neurological speech impairment Snoring Joint hyperflexibility Overgrowth Clonus Inability to walk Developmental regression Disproportionate short stature Absent speech Cerebral atrophy Behavioral abnormality Kyphosis Full cheeks Overfolding of the superior helices Mandibular condyle aplasia Muscular hypotonia Protruding ear Speech articulation difficulties Intrauterine growth retardation Downslanted palpebral fissures Cleft at the superior portion of the pinna Broad thumb Question mark ear Mandibular condyle hypoplasia Ventricular septal defect Hypoplastic superior helix Poor speech Neonatal short-limb short stature Diaphyseal thickening Microcephaly Large forehead Tremor Diabetes mellitus Patent ductus arteriosus Delayed puberty Aplasia/hypoplasia of the extremities Abnormality of the elbow Spinal canal stenosis Abnormal cardiac septum morphology Pes planus Muscular hypotonia of the trunk Osteopenia Limited elbow extension Long thorax Childhood onset short-limb short stature Narrow sacroiliac notch Myopia Right ventricular hypertrophy Hallux valgus Retrognathia Slender build Motor delay Hypoplasia of the corpus callosum Left ventricular noncompaction Intention tremor Mild global developmental delay Speech apraxia Patent foramen ovale Perseveration Increased head circumference Abnormal cerebellum morphology High, narrow palate Abnormality of the ilium Deviated nasal septum Acromelia Pointed chin Deeply set eye Abnormality of the voice Camptodactyly of finger Attention deficit hyperactivity disorder Prominent nasal bridge Arachnodactyly Hypoplasia of the maxilla Psychosis Anorexia Hallucinations Narrow face Short chin Aplasia/Hypoplasia of the corpus callosum Abnormality of the genitourinary system Schizophrenia Deep philtrum Aortic aneurysm Agenesis of corpus callosum Obsessive-compulsive behavior Emotional lability Disproportionate tall stature Long nose Narrow nasal bridge Slender finger Aortic root aneurysm Abnormality of the rib cage Impaired social interactions Ascending tubular aorta aneurysm Velopharyngeal insufficiency Low frustration tolerance Oppositional defiant disorder Cat cry Brachycephaly Dilatation Postnatal growth retardation Elbow dislocation Sparse hair Microtia Small for gestational age Severe global developmental delay Dolichocephaly Carious teeth Downturned corners of mouth Small hand Triangular face Short metacarpal Waddling gait Nail dysplasia Type II diabetes mellitus Small nail Azoospermia Atrial septal defect Hypoplastic pelvis Flexion contracture Cognitive impairment Hypoplastic sacrum Frontal balding Clitoral hypoplasia Breast hypoplasia Oligospermia Short metatarsal Low hanging columella Short finger Agenesis of permanent teeth Short femoral neck High pitched voice Cone-shaped epiphysis Flared metaphysis Talipes equinovarus Abnormality of pelvic girdle bone morphology Abnormality of the crus of the helix Microglossia Stenosis of the external auditory canal Impaired mastication Hamartoma of tongue Difficulty in tongue movements Anterior open-bite malocclusion Abnormality of the temporomandibular joint Hypoplasia of first ribs Periauricular skin pits Aplasia/Hypoplasia of the external ear Vein of Galen aneurysmal malformation Cleft helix Postauricular skin tag Facial cleft Depressivity Macrotia Intellectual disability, moderate Broad forehead Synophrys Abnormality of skin pigmentation Joint hypermobility Everted lower lip vermilion Tented upper lip vermilion Prominent supraorbital ridges Impulsivity Broad palm External ear malformation Atresia of the external auditory canal Maxillary lateral incisor microdontia Epileptic spasms Visual impairment Encephalopathy Gait ataxia Difficulty walking Epileptic encephalopathy Hypsarrhythmia Cerebral visual impairment Sandal gap Focal impaired awareness seizure Self-injurious behavior Flat occiput Global brain atrophy Small earlobe Abnormality of the outer ear Abnormal palmar dermatoglyphics Obtundation status Hirsutism Bulbar palsy Upper airway obstruction Central apnea Long penis Temporomandibular joint ankylosis Ptosis Abnormality of the pinna Facial asymmetry Bifid uvula Uplifted earlobe Wide nasal bridge Genu varum Joint stiffness Apraxia Short palpebral fissure Hypertrichosis Broad face Broad philtrum Wide nasal base Hyperreflexia Dysarthria Ventriculomegaly Hydrocephalus Hyperhidrosis Hyperlordosis Narrow chest Macroglossia Micromelia Sudden cardiac death Abnormality of the ribs Lumbar hyperlordosis Abnormality of the metaphysis Abnormal form of the vertebral bodies Bowing of the long bones Rhizomelia Wormian bones Acanthosis nigricans Disproportionate short-limb short stature Short long bone Neuronal loss in central nervous system Delayed eruption of teeth Hernia Triangular mouth Micropenis Proptosis Skeletal dysplasia Umbilical hernia Cleft lip Otitis media Short phalanx of finger Increased bone mineral density Oligodontia Depressed nasal tip Generalized osteosclerosis Narrow naris Mesomelic short stature Talipes Narrow nasal tip Otitis media with effusion Nystagmus Spasticity Delayed speech and language development Epicanthus Cerebellar atrophy Hyporeflexia Babinski sign Cerebral cortical atrophy Hepatosplenomegaly Abnormality of the cerebral white matter Abnormally folded helix


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