Low-set ears, and Broad forehead

Diseases related with Low-set ears and Broad forehead

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


Top matches:

High match POLYVALVULAR HEART DISEASE SYNDROME


Polyvalvular heart disease syndrome is a recently described syndrome characterized by the combination of polyvalvular heart disease, short stature, facial anomalies and intellectual deficit.

POLYVALVULAR HEART DISEASE SYNDROME Is also known as phd syndrome

Related symptoms:

  • Intellectual disability
  • Short stature
  • Micrognathia
  • Ptosis
  • Low-set ears


SOURCES: ORPHANET MENDELIAN

More info about POLYVALVULAR HEART DISEASE SYNDROME

High match MECKEL SYNDROME, TYPE 8; MKS8


Meckel-Gruber syndrome is a severe autosomal recessive ciliopathy classically defined by the triad of encephalocele, polydactyly, and renal and biliary ductal dysplasia. Clinical heterogeneity exists even within families (summary by Shaheen et al., 2011).For a general phenotypic description and a discussion of genetic heterogeneity of Meckel syndrome, see MKS1 (OMIM ).

Related symptoms:

  • Microcephaly
  • Cleft palate
  • Low-set ears
  • Talipes equinovarus
  • Short neck


SOURCES: OMIM MENDELIAN

More info about MECKEL SYNDROME, TYPE 8; MKS8

High 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

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Other less relevant matches:

High match PROGEROID SYNDROME, PETTY TYPE


Progeroid syndrome, Petty type is a rare premature aging syndrome characterized by pre-and postnatal growth retardation, a congenital premature-aged appearance with distinctive craniofacial dysmorphism (wide calvaria with large open anterior fontanel and wide metopic suture, broad forehead, small face, micrognathia), markedly diminished subcutaneous fat, cutis laxa and wrinkled skin, without delay in psychomotor development. Scant, brittle hair, hypoplastic nails and delayed, abnormal dentition, as well as hypoplastic distal phalanges, umbilical hernia and eye abnormalities (myopia/hyperopia, strabismus), are also commonly associated.

PROGEROID SYNDROME, PETTY TYPE Is also known as petty syndrome|petty-laxova-wiedemann syndrome

Related symptoms:

  • Short stature
  • Failure to thrive
  • Strabismus
  • Epicanthus
  • Intrauterine growth retardation


SOURCES: ORPHANET MENDELIAN

More info about PROGEROID SYNDROME, PETTY TYPE

High 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

High match AHDC1-RELATED INTELLECTUAL DISABILITY-OBSTRUCTIVE SLEEP APNEA-MILD DYSMORPHISM SYNDROME


AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome is a rare, syndromic intellectual disability characterized by hypotonia, developmetal delay, absent or severly delayed speech development, intellectual disability, obstructive sleep apnea, mild dysmorphic facial features and behavioral abnormalities. Epilepsy, ataxia and nystagmus have also been reported.

AHDC1-RELATED INTELLECTUAL DISABILITY-OBSTRUCTIVE SLEEP APNEA-MILD DYSMORPHISM SYNDROME Is also known as mrd25|xia-gibbs syndrome|mental retardation, autosomal dominant 25

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about AHDC1-RELATED INTELLECTUAL DISABILITY-OBSTRUCTIVE SLEEP APNEA-MILD DYSMORPHISM SYNDROME

High match XQ25 MICRODUPLICATION SYNDROME


Xq25 duplication syndrome is an X-linked neurodevelopmental disorder characterized by delayed development and intellectual disability associated with abnormal behavior and dysmorphic facial features. Additional variable features may include thin corpus callosum on brain imaging and sleep disturbances. Carrier females may be mildly affected (summary by Leroy et al., 2016).

XQ25 MICRODUPLICATION SYNDROME Is also known as xq25 microtriplication|dup(x)(q25)

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about XQ25 MICRODUPLICATION SYNDROME

High match NOONAN SYNDROME 6; NS6


Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM MESH MENDELIAN

More info about NOONAN SYNDROME 6; NS6

High 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

High match PEROXISOME BIOGENESIS DISORDER 10A (ZELLWEGER); PBD10A


Zellweger syndrome (ZS) is an autosomal recessive multiple congenital anomaly syndrome resulting from disordered peroxisome biogenesis. Affected children present in the newborn period with profound hypotonia, seizures, and inability to feed. Characteristic craniofacial anomalies, eye abnormalities, neuronal migration defects, hepatomegaly, and chondrodysplasia punctata are present. Children with this condition do not show any significant development and usually die in the first year of life (summary by Steinberg et al., 2006).For a complete phenotypic description and a discussion of genetic heterogeneity of Zellweger syndrome, see {214100}.Individuals with PBDs of complementation group 12 (CG12, equivalent to CGG) have mutations in the PEX3 gene. For information on the history of PBD complementation groups, see {214100}.

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Hypertelorism
  • Micrognathia
  • Muscular hypotonia


SOURCES: OMIM MENDELIAN

More info about PEROXISOME BIOGENESIS DISORDER 10A (ZELLWEGER); PBD10A

Top 5 symptoms//phenotypes associated to Low-set ears and Broad forehead

Symptoms // Phenotype % cases
Short stature Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
Hypertelorism Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Low-set ears and Broad forehead. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Downslanted palpebral fissures Low-set, posteriorly rotated ears Pulmonic stenosis Micrognathia Epicanthus Strabismus Sparse hair Behavioral abnormality High forehead Posteriorly rotated ears Atrial septal defect Anteverted nares Myopia Seizures Delayed speech and language development Ptosis High palate

Rare Symptoms - Less than 30% cases


Microcephaly Thick eyebrow Prominent nose Hyperkeratosis Bilateral ptosis Sparse eyebrow Curly hair Failure to thrive Hypoplasia of the corpus callosum Mandibular prognathia Umbilical hernia Abnormal facial shape Short distal phalanx of finger Mitral valve prolapse Feeding difficulties Hyperactivity Autism Thin upper lip vermilion Anxiety Cleft palate Autistic behavior Obsessive-compulsive behavior Depressed nasal bridge Cardiomyopathy Abnormality of the pinna Macrocephaly Abdominal distention Round face Short neck Narrow chest Congestive heart failure Uplifted earlobe Frontal bossing Malar flattening Cerebellar hypoplasia Aggressive behavior Ventricular septal defect Smooth philtrum Thick vermilion border Highly arched eyebrow Sleep disturbance Cerebellar vermis hypoplasia Gingival overgrowth Widely spaced teeth Areflexia Retrocerebellar cyst Neurodevelopmental delay Laryngomalacia Right aortic arch Apnea Delayed myelination Perimembranous ventricular septal defect Esotropia Sleep apnea Cortical gyral simplification Severe global developmental delay Tracheomalacia Obstructive sleep apnea Snoring Secundum atrial septal defect Epiphyseal stippling Decreased fetal movement Schizophrenia Long nose Prominent nasal bridge Asymmetry of the thorax Anonychia Hydroureter Growth hormone deficiency Cafe-au-lait spot Relative macrocephaly Broad neck Long eyebrows Hyperparathyroidism Juvenile myelomonocytic leukemia Abnormality of cardiovascular system morphology Joint stiffness Aganglionic megacolon Camptodactyly of finger Vesicoureteral reflux Arachnodactyly Webbed neck Leukemia Facial hypotonia Edema Hearing impairment Growth delay Sensorineural hearing impairment Cryptorchidism Motor delay Wide nasal bridge Hepatomegaly Hypertrophic cardiomyopathy Cataract Muscular hypotonia Megacystis Intellectual disability, mild Abdominal situs inversus Abnormal heart morphology Aplasia/Hypoplasia of the abdominal wall musculature Upslanted palpebral fissure Hyperlordosis Respiratory distress Long face Tricuspid regurgitation Peripheral neuropathy Aortic valve stenosis Dental crowding Abnormality of the skin Proptosis Coarse facial features Equinovarus deformity Joint hyperflexibility Dolichocephaly Peripheral axonal neuropathy Ichthyosis Fine hair Hemangioma Abnormal heart valve morphology Hyperechogenic kidneys Arthropathy Cleft upper lip Talipes equinovarus Short nose Microphthalmia Polydactyly Cleft lip Abnormality of the kidney Postaxial hand polydactyly Enlarged kidney Depressed nasal ridge Encephalocele Renal dysplasia Polycystic kidney dysplasia Anophthalmia Pericardial effusion Occipital encephalocele Absent eyebrow Neuropathic arthropathy Ataxia Wide mouth Arrhythmia Brachydactyly Fever Vomiting Constipation Gastroesophageal reflux Attention deficit hyperactivity disorder Delayed skeletal maturation Hypermetropia Small hand Short foot Small nail Broad-based gait Scoliosis Pain Long eyelashes in irregular rows Short philtrum Abnormal dermatoglyphics Intrauterine growth retardation Everted lower lip vermilion Wide anterior fontanel Abnormality of the hair Abnormality of the nail Generalized hirsutism Cutis laxa Shagreen patch Reduced number of teeth Redundant skin Brittle hair Reduced subcutaneous adipose tissue Lipoatrophy Prematurely aged appearance Decreased skull ossification Generalized neonatal hypotonia



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