Macrocephaly, and Low-set, posteriorly rotated ears

Diseases related with Macrocephaly and Low-set, posteriorly rotated ears

In the following list you will find some of the most common rare diseases related to Macrocephaly and Low-set, posteriorly rotated ears that can help you solving undiagnosed cases.

Top matches:

Spondyloepimetaphyseal dysplasia, aggrecan type is a new form of skeletal dysplasia characterized by severe short stature, facial dysmorphism and characteristic radiographic findings.

SPONDYLOEPIMETAPHYSEAL DYSPLASIA, AGGRECAN TYPE Is also known as semd, aggrecan type

Related symptoms:

  • Short stature
  • Low-set ears
  • Brachydactyly
  • Macrocephaly
  • Short neck


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about SPONDYLOEPIMETAPHYSEAL DYSPLASIA, AGGRECAN TYPE

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

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

Other less relevant matches:

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

High match LEGIUS SYNDROME

Legius syndrome, also known as NF1-like syndrome, is a rare, genetic skin pigmentation disorder characterized by multiple café-au-lait macules with or without axillary or inguinal freckling.

LEGIUS SYNDROME Is also known as nfls|neurofibromatosis type 1-like syndrome|nf1-like syndrome|neurofibromatosis 1-like syndrome

Related symptoms:

  • Generalized hypotonia
  • Hypertelorism
  • Neoplasm
  • Micrognathia
  • Abnormal facial shape


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about LEGIUS SYNDROME

Related symptoms:

  • Intellectual disability
  • Short stature
  • Scoliosis
  • Hypertelorism
  • Abnormal facial shape


SOURCES: MESH OMIM MENDELIAN

More info about NOONAN SYNDROME 4; NS4

Neonatal adrenoleukodystrophy (NALD) is the variant of intermediate severity of the PBD-Zellweger syndrome spectrum (PBD-ZSS; see this term), charcterized by hypotonia, leukodystrophy, and vision and sensorineural hearing deficiencies. Phenotypic overlap is seen between NALD and infantile Refsum disease (IRD) (see this term).

NEONATAL ADRENOLEUKODYSTROPHY Is also known as nald

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about NEONATAL ADRENOLEUKODYSTROPHY

Shashi-Pena syndrome is a neurodevelopmental syndrome characterized by delayed psychomotor development, variable intellectual disability, hypotonia, facial dysmorphism, and some unusual features, including enlarged head circumference, glabellar nevus flammeus, and deep palmar creases. Some patients may also have atrial septal defect, episodic hypoglycemia, changes in bone mineral density, and/or seizures (summary by Shashi et al., 2016).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about SHASHI-PENA SYNDROME; SHAPNS

High match WEAVER SYNDROME

Weaver syndrome (WVS) is a rare, multisystem disorder characterized by tall stature, a typical facial appearance (hypertelorism, retrognathia) and variable intellectual disability. Additional features may include camptodactyly, soft doughy skin, umbilical hernia, and a low hoarse cry.

WEAVER SYNDROME Is also known as camptodactyly-overgrowth-unusual facies syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Scoliosis
  • Hypertelorism
  • Micrognathia


SOURCES: ORPHANET MENDELIAN

More info about WEAVER SYNDROME

6q terminal deletion syndrome is marked by a characteristic facial dysmorphism, short neck and psychomotor retardation, generally associated with a range of non-specific malformations.

Related symptoms:

  • Seizures
  • Global developmental delay
  • Scoliosis
  • Hypertelorism
  • Nystagmus


SOURCES: ORPHANET MENDELIAN

More info about 6Q TERMINAL DELETION SYNDROME

Top 5 symptoms//phenotypes associated to Macrocephaly and Low-set, posteriorly rotated ears

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Low-set ears Common - Between 50% and 80% cases
Ptosis Common - Between 50% and 80% cases
Hypertelorism Common - Between 50% and 80% cases
Posteriorly rotated ears Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Macrocephaly and Low-set, posteriorly rotated ears. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Generalized hypotonia Micrognathia Short neck Downslanted palpebral fissures Intellectual disability Abnormal facial shape Epicanthus Short stature Scoliosis High palate Dental malocclusion Hearing impairment High, narrow palate Seizures Feeding difficulties Atrial septal defect Round face

Rare Symptoms - Less than 30% cases

Ankylosis Cupped ear Preauricular skin tag Dental crowding Apnea Full cheeks Snoring Narrow mouth Respiratory distress Cleft palate Strabismus Nystagmus Delayed speech and language development Overfolding of the superior helices Cleft at the superior portion of the pinna Retrognathia Feeding difficulties in infancy Cryptorchidism Highly arched eyebrow Accelerated skeletal maturation Sensorineural hearing impairment Mandibular condyle aplasia Cafe-au-lait spot Curly hair Mandibular condyle hypoplasia Hypoplastic superior helix Speech articulation difficulties Abnormality of neuronal migration Wide intermamillary distance Dolichocephaly Question mark ear Glossoptosis Joint laxity Pulmonic stenosis Broad thumb Anteverted nares Hyperkeratosis Proptosis High forehead Broad forehead Hoarse voice Fine hair Sparse eyebrow Low anterior hairline Infantile muscular hypotonia Hallux valgus Abnormality of the skeletal system Long face Ventriculomegaly Behavioral abnormality Kyphosis Poor speech Cerebral atrophy Gynecomastia Autistic behavior Osteoporosis Polar cataract Plagiocephaly Heterotopia Hypoglycemia Elevated hepatic transaminase Elevated long chain fatty acids Broad foot Prominent metopic ridge Abnormality of movement Abnormality of metabolism/homeostasis EEG abnormality Developmental regression Aplasia/Hypoplasia of the ribs Phimosis Periventricular gray matter heterotopia Abnormality of the liver Severe global developmental delay Talipes calcaneovalgus Retinal dystrophy Broad philtrum Esotropia Abnormality of retinal pigmentation Decreased liver function Wide anterior fontanel Colpocephaly Bilateral single transverse palmar creases Abnormal palate morphology Recurrent fractures Adrenal insufficiency Primary adrenal insufficiency Short palpebral fissure Hyperlipidemia Broad nasal tip Intellectual disability, mild Clinodactyly Joint hyperflexibility Hypoplasia of penis Abnormality of the metaphysis Optic atrophy Tall stature Hypospadias Abnormality of the fingernails Obesity Sandal gap Prominent forehead Deep philtrum Redundant skin Hypoplasia of the corpus callosum Failure to thrive Abnormally low-pitched voice Deep-set nails Thin nail Large hands Hypoplastic toenails Cerebellar hypoplasia Finger syndactyly Nevus Long philtrum Febrile seizures Hypsarrhythmia Reduced bone mineral density Hyperinsulinemia Nevus flammeus Deep palmar crease Spasticity Talipes equinovarus Hypertonia Abnormality of cardiovascular system morphology Gait ataxia Inguinal hernia Pes cavus Macrotia Joint stiffness Camptodactyly of finger Thick vermilion border Polymicrogyria Dysmetria Hypermetropia Abnormality of the cerebral white matter Frontal bossing Freckling Wide nasal bridge Gastroesophageal reflux Sparse hair Peripheral axonal neuropathy Ichthyosis Mitral valve prolapse Hemangioma Bilateral ptosis Absent eyebrow Arthropathy Neuropathic arthropathy Neonatal hypotonia Cardiomyopathy Hirsutism Poor suck Bulbar palsy Upper airway obstruction Central apnea Long penis Temporomandibular joint ankylosis Abnormality of the pinna Protruding ear Facial asymmetry Coarse facial features Myopia Abnormality of the outer ear Relative macrocephaly Brachydactyly Malar flattening Midface retrusion Severe short stature Mandibular prognathia Hyperlordosis Platyspondyly Lumbar hyperlordosis Rhizomelia Abnormality of the nail Metaphyseal widening Peripheral neuropathy Mesomelia Short finger Proportionate short stature Barrel-shaped chest Spondyloepimetaphyseal dysplasia Irregular epiphyses Vertebral clefting Functional respiratory abnormality Absent nasal bridge Absent nasal cartilage Bifid uvula Atresia of the external auditory canal Hyperreflexia Thick lower lip vermilion Multiple cafe-au-lait spots Neoplasm of the lung Lisch nodules Axillary freckling Depressed nasal bridge Ventricular septal defect Polyhydramnios Hypertrophic cardiomyopathy Webbed neck Sparse and thin eyebrow Multiple lipomas Cubitus valgus Bilateral cryptorchidism Abnormality of coagulation Prolonged bleeding time Blue irides High anterior hairline Pectus excavatum of inferior sternum Muscular hypotonia Cataract Visual impairment Abnormality of the sternum Neurofibromas Facial cleft Periauricular skin pits External ear malformation Obstructive sleep apnea 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 Aplasia/Hypoplasia of the external ear Low posterior hairline Vein of Galen aneurysmal malformation Cleft helix Abnormality of the crus of the helix Postauricular skin tag Neoplasm Hyperactivity Attention deficit hyperactivity disorder Abnormality of skin pigmentation Triangular face Specific learning disability Abnormality of the cerebral cortex


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