Macrocephaly, and Apnea

Diseases related with Macrocephaly and Apnea

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

Top matches:

NDPLHS is an autosomal dominant disorder characterized by developmental stagnation or regression apparent in the first years of life and manifest as loss of purposeful hand movements, loss of language, and intellectual disability. Additional features may include stereotypic movements, dystonia, gait abnormalities, sleep disturbances, and small hands and feet. The phenotype is reminiscent of Rett syndrome (RTT ) (summary by Yoo et al., 2017).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Microcephaly
  • Macrocephaly
  • Gait disturbance


SOURCES: OMIM MENDELIAN

More info about NEURODEVELOPMENTAL DISORDER WITH POOR LANGUAGE AND LOSS OF HAND SKILLS; NDPLHS

Medium match HYPOCHONDROPLASIA

Hypochondroplasia is characterized by disproportionate short stature, mild lumbar lordosis and limited extension of the elbow joints.

Related symptoms:

  • Intellectual disability
  • Scoliosis
  • Brachydactyly
  • Macrocephaly
  • Skeletal dysplasia


SOURCES: ORPHANET MENDELIAN

More info about HYPOCHONDROPLASIA

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

Other less relevant matches:

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

D-2-hydroxyglutaric aciduria (D-2-HGA) is a rare clinically variable neurological form of 2-hydroxyglutaric aciduria (see this term) characterized biochemically by elevated D-2-hydroxyglutaric acid (D-2-HG) in the urine, plasma and cerebrospinal fluid.

D-2-HYDROXYGLUTARIC ACIDURIA Is also known as d-2-hga|d-2-hydroxyglutaric acidemia|d2hga

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about D-2-HYDROXYGLUTARIC ACIDURIA

Medium match SIALURIA

Sialuria is an extremely rare metabolic disorder described in fewer than 10 patients to date and characterized by variable signs and symptoms, mostly in infancy, including transient failure to thrive, slightly prolonged neonatal jaundice, equivocal or mild hepatomegaly, microcytic anemia, frequent upper respiratory infections, gastroenteritis, dehydration and flat and coarse facies. Learning difficulties and seizures may occur in childhood.

SIALURIA Is also known as sialuria, french type

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis
  • Hypertelorism


SOURCES: ORPHANET OMIM MENDELIAN

More info about SIALURIA

Medium 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

Tenorio syndrome is characterized by overgrowth, macrocephaly, and intellectual disability (ID). Some patients may have mild hydrocephaly, hypoglycemia, and inflammatory diseases resembling Sjogren syndrome (OMIM ) (summary by Tenorio et al., 2014).

TENORIO SYNDROME; TNORS Is also known as overgrowth, macrocephaly, and intellectual disability syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Scoliosis
  • Delayed speech and language development


SOURCES: OMIM MENDELIAN

More info about TENORIO SYNDROME; TNORS

Medium match PYCNODYSOSTOSIS

Pycnodysostosis is a genetic lysosomal disease characterized by osteosclerosis of the skeleton, short stature and brittle bones.

PYCNODYSOSTOSIS Is also known as pyknodysostosis|pycd|pknd

Related symptoms:

  • Short stature
  • Scoliosis
  • Micrognathia
  • Pain
  • Cognitive impairment


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about PYCNODYSOSTOSIS

Top 5 symptoms//phenotypes associated to Macrocephaly and Apnea

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

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Scoliosis Frontal bossing Respiratory distress Feeding difficulties Micrognathia Prominent forehead Dental crowding Sleep apnea Abnormality of pelvic girdle bone morphology Snoring Hyperlordosis Skeletal dysplasia Brachydactyly Dental malocclusion Microcephaly Anteverted nares Low-set ears Malar flattening Hydrocephalus Hepatomegaly

Rare Symptoms - Less than 30% cases

Ankylosis Cupped ear Preauricular skin tag Glossoptosis Intellectual disability, mild Low-set, posteriorly rotated ears Round face Full cheeks Splenomegaly Gastroesophageal reflux Narrow mouth Posteriorly rotated ears Cleft palate Brachycephaly Upper airway obstruction Mandibular condyle hypoplasia Overfolding of the superior helices Gait disturbance Hyperactivity Cerebral cortical atrophy Mandibular prognathia Coarse facial features Wide nasal bridge Muscular hypotonia Abnormal facial shape Obstructive sleep apnea Large forehead Speech articulation difficulties Protruding ear Pain Cleft at the superior portion of the pinna Mandibular condyle aplasia Question mark ear D-2-hydroxyglutaric aciduria Hypoplastic superior helix Cognitive impairment Hearing impairment Wormian bones Inspiratory stridor Narrow chest Short toe Genu varum Spinal canal stenosis Abnormality of the elbow Macroglossia Childhood onset short-limb short stature Short stature Developmental regression Joint hyperflexibility Muscle weakness Dystonia Respiratory insufficiency Encephalopathy Bowing of the long bones Micromelia Abnormal form of the vertebral bodies Kyphosis Stridor Abnormality of the skeletal system Poor suck Hepatosplenomegaly Severe muscular hypotonia Cerebral visual impairment Midface retrusion Abnormality of the metaphysis Aciduria Dolichocephaly Irritability Anxiety Hypoglycemia Delayed speech and language development Osteopenia Acromelia Pneumonia Wide nose Telecanthus Thick eyebrow Narrow sacroiliac notch Depressed nasal bridge Hyperhidrosis Severe short stature Syncope Overgrowth Obesity Intrauterine growth retardation Abnormality of the ilium Chronic otitis media Aplasia/hypoplasia of the extremities Disproportionate short-limb short stature Clonus Lumbar hyperlordosis Abnormality of the ribs Dysarthria Limb undergrowth Sudden cardiac death Short palm Neurological speech impairment Expressive language delay Acanthosis nigricans Joint stiffness Long thorax Short long bone Elbow dislocation Rhizomelia Flared metaphysis Mesomelia Limited elbow extension Disproportionate short stature Conductive hearing impairment Diaphyseal thickening Neonatal short-limb short stature Hyperreflexia Growth hormone deficiency Hypertrichosis Abnormality of the clavicle Increased bone mineral density Abnormality of the nail Narrow palate Abnormality of the fingernails Osteolysis Increased susceptibility to fractures Back pain Abnormality of the thorax Abnormality of dental morphology Osteomyelitis Prominent occiput Agenesis of permanent teeth Abnormality of the vertebral column Osteopetrosis Abnormal vertebral morphology Osteolytic defects of the phalanges of the hand Spondylolisthesis Ridged nail Small face Low back pain Abnormal pattern of respiration Persistence of primary teeth Delayed eruption of permanent teeth Delayed eruption of primary teeth Absent frontal sinuses Spondylolysis Osteolytic defects of the distal phalanges of the hand Persistent open anterior fontanelle Bone pain Abnormality of epiphysis morphology Clumsiness Osteoporosis Conjunctivitis Cerebral palsy Keratitis Delayed cranial suture closure Keratoconjunctivitis sicca Raynaud phenomenon Hemihypertrophy Stomatitis Recurrent aphthous stomatitis Cavum septum pellucidum Hypoinsulinemia Anemia Abnormality of the dentition Proptosis Abnormality of the face High forehead Craniosynostosis Carious teeth Short distal phalanx of finger Delayed eruption of teeth Recurrent fractures Postural instability Hypodontia Hypoplasia of the maxilla Prominent nose Long hallux Abnormality of the skin Blue sclerae Small nail Spinal deformities Generalized tonic seizures Prolonged prothrombin time External ear malformation Long penis Temporomandibular joint ankylosis Sensorineural hearing impairment Ptosis Downslanted palpebral fissures Abnormality of the pinna Facial asymmetry Bifid uvula Abnormality of the outer ear Atresia of the external auditory canal Facial cleft Microglossia Bulbar palsy 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 Abnormality of the crus of the helix Central apnea Hirsutism Visual impairment Breathing dysregulation Dysphagia Generalized tonic-clonic seizures Inability to walk Small hand Short foot Sleep disturbance Abnormal autonomic nervous system physiology Self-injurious behavior Agitation Hyperventilation Bruxism Developmental stagnation Osteoarthritis Neonatal hypotonia Abnormality of femur morphology Neoplasm Clinodactyly Cerebellar hypoplasia Agenesis of corpus callosum Dyspnea Delayed myelination Postnatal microcephaly Optic nerve hypoplasia Apathy Poor eye contact L-2-hydroxyglutaric aciduria Postauricular skin tag Cardiomyopathy Abnormality of the mitochondrion Memory impairment Epicanthus Long philtrum Abnormality of metabolism/homeostasis Inguinal hernia Abdominal pain Thin upper lip vermilion Elevated hepatic transaminase Attention deficit hyperactivity disorder Synophrys Smooth philtrum Joint hypermobility High, narrow palate Low posterior hairline Hypertelorism Hoarse voice Generalized hirsutism Hyperkinesis Cholelithiasis 2-3 toe syndactyly Thoracic hypoplasia Hypoplastic nipples Protuberant abdomen Episodic abdominal pain Dysostosis multiplex Prolonged partial thromboplastin time Periorbital fullness High palate Multifocal cerebral white matter abnormalities Blindness Aortic regurgitation Vomiting Behavioral abnormality Cerebral atrophy Myoclonus Lethargy Flat face Broad nasal tip Focal-onset seizure Epileptic encephalopathy Hypsarrhythmia Involuntary movements Absence seizures Shock Subependymal cysts Focal impaired awareness seizure Turricephaly Increased CSF protein Dilation of lateral ventricles Delayed CNS myelination Periventricular leukomalacia Episodic vomiting Narrow naris Anteverted ears Infantile encephalopathy Glutaric aciduria Cardiogenic shock Abnormal pelvis bone ossification


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