Abnormal facial shape, and Low-set, posteriorly rotated ears

Diseases related with Abnormal facial shape and Low-set, posteriorly rotated ears

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


Top matches:

Medium match CARDIOFACIOCUTANEOUS SYNDROME 2; CFC2


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

Medium match 2Q24 MICRODELETION SYNDROME


2q24 microdeletion syndrome is a chromosomal anomaly consisting of a partial long arm deletion of chromosome 2 and characterized clinically by a wide range of manifestations (depending on the specific region deleted) which can include seizures, microcephaly, dysmorphic features, cleft palate, eye abnormalities (coloboma, cataract and microphthalmia), growth retardation, failure to thrive, heart defects, limb anomalies, developmental delay and autism.

2Q24 MICRODELETION SYNDROME Is also known as monosomy 2q24|del(2)(q24)

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Growth delay
  • Hypertelorism


SOURCES: ORPHANET MESH MENDELIAN

More info about 2Q24 MICRODELETION SYNDROME

Medium match AURICULOCONDYLAR SYNDROME 2; ARCND2


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

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Other less relevant matches:

Medium match INTELLECTUAL DEVELOPMENTAL DISORDER WITH GASTROINTESTINAL DIFFICULTIES AND HIGH PAIN THRESHOLD; IDDGIP


IDDGIP is an autosomal dominant syndromic neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability with speech delay, and behavioral abnormalities. Most patients have variable additional features, including feeding and gastrointestinal difficulties, high pain threshold and/or hypersensitivity to sound, and dysmorphic features, including mild facial abnormalities, strabismus, and small hands and feet (summary by Jansen et al., 2017).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about INTELLECTUAL DEVELOPMENTAL DISORDER WITH GASTROINTESTINAL DIFFICULTIES AND HIGH PAIN THRESHOLD; IDDGIP

Medium match MONOSOMY 5P


Monosomy 5p, also known as Cri du chat syndrome, is a rare autosomal deletion syndrome characterized by a mewing cry (cri du chat) in infancy, multiple congenital anomalies, intellectual disability, microcephaly, and facial dysmorphism.

MONOSOMY 5P Is also known as cri du chat syndrome|deletion 5p

Related symptoms:

  • Short stature
  • Microcephaly
  • Scoliosis
  • Hypertelorism
  • Muscular hypotonia


SOURCES: ORPHANET MENDELIAN

More info about MONOSOMY 5P

Medium match COG1-CDG


COG1-CDG is an extremely rare form of CDG syndrome (see this term) characterized clinically in the few cases reported to date by variable signs including microcephaly, growth retardation, psychomotor retardation and facial dysmorphism.

COG1-CDG Is also known as congenital disorder of glycosylation type iig|cdgii/cog1 cerebrocostomandibular-like syndrome|cdg iig|cdg2g|cdg-iig|congenital disorder of glycosylation type 2g|cdgiig|carbohydrate deficient glycoprotein syndrome type iig|cdg syndrome type iig

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about COG1-CDG

Medium match AURICULOCONDYLAR SYNDROME


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

Medium match FAMILIAL VISCERAL MYOPATHY


Familial visceral myopathy is a rare hereditary myopathic degeneration of both gastrointestinal and urinary tracts that causes chronic intestinal pseudo-obstruction. It usually presents after the first decade of life with megaduodenum, megacystis and symptoms such as abdominal distension and/or pain, vomiting, constipation, diarrhea, dysphagia, and/or urinary tract infections.n.

FAMILIAL VISCERAL MYOPATHY Is also known as familial hollow visceral myopathy|megaduodenum and/or megacystis|hereditary hollow visceral myopathy

Related symptoms:

  • Microcephaly
  • Micrognathia
  • Cleft palate
  • Anteverted nares
  • Abnormality of cardiovascular system morphology


SOURCES: ORPHANET MENDELIAN

More info about FAMILIAL VISCERAL MYOPATHY

Medium match 15Q14 MICRODELETION SYNDROME


15q14 microdeletion syndrome is a recently described syndrome characterized by developmental delay, short stature and facial dysmorphism.

15Q14 MICRODELETION SYNDROME Is also known as del(15)(q14)|monosomy 15q14

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about 15Q14 MICRODELETION SYNDROME

Medium 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

Top 5 symptoms//phenotypes associated to Abnormal facial shape and Low-set, posteriorly rotated ears

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Posteriorly rotated ears Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Downslanted palpebral fissures Common - Between 50% and 80% cases
Short neck Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Cleft palate Intellectual disability Micrognathia Low-set ears Hypertelorism Short stature High palate Microcephaly Round face Macrocephaly Preauricular skin tag Broad forehead Atrial septal defect Narrow mouth Anteverted nares Feeding difficulties Ptosis

Rare Symptoms - Less than 30% cases


Overfolding of the superior helices Speech articulation difficulties Snoring Glossoptosis Apnea Ankylosis Cupped ear Dental malocclusion Full cheeks Gastroesophageal reflux Respiratory distress Hypoplastic superior helix Attention deficit hyperactivity disorder Mandibular condyle hypoplasia Muscular hypotonia Smooth philtrum Intellectual disability, moderate Long philtrum Inguinal hernia Abnormality of cardiovascular system morphology Wide nasal bridge Epicanthus Scoliosis Question mark ear Small hand Prominent nasal bridge Thin upper lip vermilion Autism Hyperactivity Delayed speech and language development Cleft at the superior portion of the pinna Mandibular condyle aplasia Hearing impairment Dental crowding Growth delay Severe global developmental delay Failure to thrive Behavioral abnormality Neonatal hypotonia Autistic behavior Camptodactyly of finger Myopia Seizures Short philtrum Central apnea Arachnodactyly High forehead Periauricular skin pits Low posterior hairline Anterior open-bite malocclusion Abnormality of the temporomandibular joint Cafe-au-lait spot Hypoplasia of first ribs Neurofibromas Abnormality of the crus of the helix Aplasia/Hypoplasia of the external ear Vein of Galen aneurysmal malformation Multiple cafe-au-lait spots Multiple lipomas Abnormality of the sternum Freckling Cleft helix Deeply set eye Impaired mastication Difficulty in tongue movements Lisch nodules Abnormality of the pinna Protruding ear Facial asymmetry Bifid uvula Abnormality of the outer ear Atresia of the external auditory canal Facial cleft Hamartoma of tongue External ear malformation Obstructive sleep apnea Microglossia Neoplasm of the lung Stenosis of the external auditory canal Umbilical hernia Postauricular skin tag Vesicoureteral reflux Joint stiffness Abnormal isoelectric focusing of serum transferrin Pointed chin Motor delay Ventricular septal defect Narrow forehead Abnormality of the dentition Kyphosis Convex nasal ridge Tented upper lip vermilion Highly arched eyebrow Immunodeficiency Everted lower lip vermilion Bulbous nose Long face Oral cleft Abnormal cardiac septum morphology Megacystis Laryngomalacia Specific learning disability Neoplasm Triangular face High, narrow palate Narrow chest Abdominal distention Cleft lip Abnormality of skin pigmentation Everted upper lip vermilion Abdominal situs inversus Aganglionic megacolon Hydroureter Anonychia Hyperparathyroidism Biparietal narrowing Aplasia/Hypoplasia of the abdominal wall musculature Acne Sensorineural hearing impairment Obsessive-compulsive behavior Butterfly vertebrae Small face Microphthalmia Coloboma Small for gestational age Toe syndactyly Interphalangeal joint contracture of finger Long fingers Hand clenching Neuropathic arthropathy Abnormal oral frenulum morphology Abnormality iris morphology Bullet-shaped distal phalanx of the hallux Hirsutism Poor suck Bulbar palsy Cataract Arthropathy Long penis Pulmonic stenosis Peripheral neuropathy Cardiomyopathy Hyperkeratosis Proptosis Coarse facial features Sparse hair Peripheral axonal neuropathy Curly hair Ichthyosis Mitral valve prolapse Fine hair Hemangioma Bilateral ptosis Sparse eyebrow Absent eyebrow Upper airway obstruction Temporomandibular joint ankylosis Enlarged cisterna magna Osteopenia High pitched voice Abnormality of bone mineral density Cat cry Hypertension Talipes equinovarus Kyphoscoliosis Postnatal growth retardation Microretrognathia Microtia Rhizomelia Progressive microcephaly Coxa valga Failure to thrive in infancy Vertebral segmentation defect Pierre-Robin sequence Abnormality of the voice Recurrent fractures Strabismus Hyperlordosis Pain Brachydactyly Fever Vomiting Constipation Anxiety Wide mouth Joint hyperflexibility Hypermetropia Short foot Small nail Broad-based gait Intrauterine growth retardation Intellectual disability, severe Finger syndactyly Axillary freckling



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Motor delay and Cholestasis, related diseases and genetic alterations Wide nasal bridge and Asthma, related diseases and genetic alterations Delayed speech and language development and Narrow forehead, related diseases and genetic alterations Low-set ears and Neuroblastoma, related diseases and genetic alterations Growth delay and Frontal bossing, related diseases and genetic alterations Intellectual disability and Nephrotic syndrome, related diseases and genetic alterations

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