Macrocephaly, and Short philtrum

Diseases related with Macrocephaly and Short philtrum

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

Top matches:

X-LINKED INTELLECTUAL DISABILITY DUE TO GRIA3 MUTATIONS Is also known as mental retardation, x-linked, syndromic 29|mental retardation, x-linked 94|mrx94|mrxs29

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY DUE TO GRIA3 MUTATIONS

X-linked dominant chondrodysplasia Chassaing-Lacombe type is a rare genetic bone disorder characterized by chondrodysplasia, intrauterine growth retardation (IUGR), hydrocephaly and facial dysmorphism in the affected males.

X-LINKED DOMINANT CHONDRODYSPLASIA, CHASSAING-LACOMBE TYPE Is also known as x-linked dominant chondrodysplasia-hydrocephaly-microphthalmia syndrome

Related symptoms:

  • Intellectual disability
  • Short stature
  • Growth delay
  • Micrognathia
  • Low-set ears


SOURCES: OMIM ORPHANET MENDELIAN

More info about X-LINKED DOMINANT CHONDRODYSPLASIA, CHASSAING-LACOMBE TYPE

X-linked intellectual deficit-cerebellar hypoplasia, also known as OPHN1 syndrome, is a rare syndromic form of cerebellar dysgenesis characterized by moderate to severe intellectual deficit and cerebellar abnormalities.

X-LINKED INTELLECTUAL DISABILITY-CEREBELLAR HYPOPLASIA SYNDROME Is also known as oligophrenin-1 syndrome|ophn1 syndrome|mental retardation, x-linked 60, formerly|mrx60, formerly

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY-CEREBELLAR HYPOPLASIA SYNDROME

Other less relevant matches:

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

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 52; MRD52

Autism spectrum disorder due to AUTS2 deficiency is a rare genetic syndromic intellectual disability characterized by global developmental delay and borderline to severe intellectual disability, autism spectrum disorder with obsessive behavior, stereotypies, hyperactivity but frequently friendly and affable personality, feeding difficulties, short stature, muscular hypotonia, microcephaly, characteristic dysmorphic features (hypertelorism, high arched eyebrows, ptosis, deep and/or broad nasal bridge, broad/prominent nasal tip, short and/or upturned philtrum, narrow mouth, and micrognathia), and skeletal anomalies (kyphosis and/or scoliosis, arthrogryposis, slender habitus and extremities). Other clinical features may include hernias, congenital heart defects, cryptorchidism and seizures.

AUTISM SPECTRUM DISORDER DUE TO AUTS2 DEFICIENCY Is also known as asd due to auts2 deficiency|auts2 syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTISM SPECTRUM DISORDER DUE TO AUTS2 DEFICIENCY

Holoprosencephaly-9 refers to a disorder characterized by a wide phenotypic spectrum of brain developmental defects, with or without overt forebrain cleavage abnormalities. It usually includes midline craniofacial anomalies involving the first branchial arch and/or orbits, pituitary hypoplasia with panhypopituitarism, and postaxial polydactyly. The disorder shows incomplete penetrance and variable expressivity (summary by Roessler et al., 2003 and Bertolacini et al., 2012).For general phenotypic information and a discussion of genetic heterogeneity of holoprosencephaly, see HPE1 (OMIM ).

HOLOPROSENCEPHALY 9; HPE9 Is also known as holoprosencephaly with microphthalmia and first branchial arch anomalies|pituitary anomalies with holoprosencephaly-like features

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly
  • Cryptorchidism


SOURCES: OMIM MENDELIAN

More info about HOLOPROSENCEPHALY 9; HPE9

Ritscher-Schinzel syndrome-2 is an X-linked recessive syndromic form of intellectual disability associated with posterior fossa defects, cardiac malformations, and minor abnormalities of the face and distal extremities (summary by Kolanczyk et al., 2015).For a discussion of genetic heterogeneity of Ritscher-Schinzel syndrome, see RTSC1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about RITSCHER-SCHINZEL SYNDROME 2; RTSC2

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

15q13.3 microdeletion (microdel15q13.3) syndrome is characterized by a wide spectrum of neurodevelopmental disorders with no or subtle dysmorphic features.

15Q13.3 MICRODELETION SYNDROME Is also known as del(15)(q13.3)|chromosome 15q13.3 microdeletion syndrome|monosomy 15q13.3

Related symptoms:

  • Seizures
  • Schizophrenia
  • Bipolar affective disorder


SOURCES: MESH MENDELIAN

More info about 15Q13.3 MICRODELETION SYNDROME

Top 5 symptoms//phenotypes associated to Macrocephaly and Short philtrum

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Abnormal facial shape Common - Between 50% and 80% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Autism Cryptorchidism Scoliosis Strabismus Frontal bossing Short stature Poor speech Hypertelorism High palate Cerebellar hypoplasia Low-set ears Microcephaly Delayed speech and language development Hyperactivity Hypotelorism Wide mouth Abnormality of the skeletal system Brachycephaly Upslanted palpebral fissure Deeply set eye Autistic behavior Ventricular septal defect

Rare Symptoms - Less than 30% cases

Patent foramen ovale Spasticity Malar flattening Motor delay Tremor Micropenis Macrotia Neonatal hypotonia Long face Abnormal cerebellum morphology Prominent nose Patent ductus arteriosus Depressed nasal bridge Relative macrocephaly Thick vermilion border Narrow mouth Kyphosis Agenesis of corpus callosum Atrial septal defect Pulmonary hypoplasia Broad forehead Small for gestational age Low posterior hairline Open mouth Abnormal cardiac septum morphology Short palpebral fissure Intention tremor Feeding difficulties Muscular hypotonia Hydrocephalus Growth delay Micrognathia Intellectual disability, severe Microphthalmia Slender build Retrocerebellar cyst Aggressive behavior Nystagmus Ataxia Prominent supraorbital ridges Semilobar holoprosencephaly Bilateral cleft lip and palate Partial agenesis of the corpus callosum Median cleft lip Alobar holoprosencephaly Bilateral cleft lip Skin tags Large forehead Abnormal cortical gyration Prominent antihelix Panhypopituitarism Anterior pituitary hypoplasia Neurodevelopmental delay Wide cranial sutures Single median maxillary incisor Median cleft lip and palate Optic nerve hypoplasia Anophthalmia Postaxial polydactyly Distal muscle weakness Respiratory distress Midface retrusion Polydactyly Cleft lip Microtia Pulmonic stenosis Oral cleft Myoclonus Hypoplasia of the maxilla Heart murmur Dental malocclusion Growth hormone deficiency Postaxial hand polydactyly Sloping forehead Coarctation of aorta Preauricular skin tag Hemivertebrae Holoprosencephaly Hypoplasia of the premaxilla Hyporeflexia Thoracic hemivertebrae Single naris Underdeveloped tragus Nasal speech Pes planus Joint laxity Muscular hypotonia of the trunk Delayed puberty High, narrow palate Dental crowding Clonus Widely spaced teeth Poor suck Hallux valgus Gastroesophageal reflux Thickened calvaria Ankylosis Mild global developmental delay Right ventricular hypertrophy Left ventricular noncompaction Speech apraxia Perseveration Increased head circumference Deviated nasal septum Schizophrenia Kyphoscoliosis Hypoplasia of the corpus callosum Prominent nasal tip Broad nasal tip Short hard palate Anterior pituitary agenesis Agenesis of incisor Asymmetric ventricles Diastolic heart murmur Syndactyly Clinodactyly Behavioral abnormality Camptodactyly Short distal phalanx of finger Intestinal malrotation Myopia Renal agenesis Convex nasal ridge Dandy-Walker malformation Wide anterior fontanel Muscle weakness Overlapping toe Broad hallux Protruding tongue Arachnoid cyst Broad neck Decreased palmar creases Thick eyebrow Wide nasal base Enlarged cisterna magna Focal-onset seizure Rhizomelia Cerebellar vermis hypoplasia Depressed nasal ridge Scrotal hypoplasia Focal impaired awareness seizure External genital hypoplasia Long nose Poor eye contact Microphallus Triangular face Abnormality of the philtrum Infra-orbital crease Disorganization of the anterior cerebellar vermis Short foot Short palm Platyspondyly Epicanthus Wide nasal bridge Hyperkeratosis Thin ribs Hypoplastic iliac wing Craniosynostosis Metaphyseal cupping of metacarpals Cognitive impairment Hypoplasia of the calcaneus Metaphyseal cupping of proximal phalanges Abnormality of the calcaneus Ventriculomegaly Dilatation Prominent forehead Distal shortening of limbs Cerebral cortical atrophy Gait ataxia Decreased skull ossification Mandibular prognathia Severe platyspondyly Thin upper lip vermilion Metaphyseal chondrodysplasia Intellectual disability, moderate Attention deficit hyperactivity disorder Neurological speech impairment 11 pairs of ribs Dysmetria Proptosis Sparse hair Cerebral palsy Failure to thrive Prominent nasal bridge Synophrys Downturned corners of mouth Delayed myelination Short upper lip Self-injurious behavior Chronic constipation Lumbar scoliosis Asymmetry of the ears Ptosis Developmental regression Flexion contracture Hyperreflexia Downslanted palpebral fissures Hypertonia Facial hypotonia Arthrogryposis multiplex congenita Narrow palate Highly arched eyebrow Microretrognathia Pectus carinatum Anxiety Blepharophimosis Exotropia Short nose Intellectual disability, mild Astigmatism Arachnodactyly Bulbous nose Sleep disturbance Narrow forehead Intrauterine growth retardation Stereotypy Obsessive-compulsive behavior Constipation Large hands Long fingers Overweight Turricephaly Long foot Hearing impairment Sensorineural hearing impairment Visual impairment Anteverted nares Absent speech Bipolar affective disorder


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