Low-set ears, and Ambiguous genitalia

Diseases related with Low-set ears and Ambiguous genitalia

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

Top matches:

Medium match SERKAL SYNDROME

SERKAL (SEx Reversion, Kidneys, Adrenal and Lung dysgenesis) syndrome is characterised by female to male sex reversal and developmental anomalies of the kidneys, adrenal glands and lungs.

SERKAL SYNDROME Is also known as serkal syndrome|sex reversion-kidneys, adrenal and lung dysgenesis syndrome

Related symptoms:

  • Growth delay
  • Cleft palate
  • Low-set ears
  • Intrauterine growth retardation
  • Ventricular septal defect


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about SERKAL SYNDROME

Endocrine-cerebro-osteodysplasia (ECO) syndrome is characterized by various anomalies of the endocrine, cerebral, and skeletal systems resulting in neonatal mortality.

ENDOCRINE-CEREBRO-OSTEODYSPLASIA SYNDROME Is also known as eco syndrome

Related symptoms:

  • Micrognathia
  • Abnormal facial shape
  • Cleft palate
  • Cryptorchidism
  • Low-set ears


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about ENDOCRINE-CEREBRO-OSTEODYSPLASIA SYNDROME

Medium match IVEMARK SYNDROME

Right atrial isomerism is a severe complex congenital heart defect resulting from embryonic disruption of proper left-right axis determination. RAI is usually characterized by complete atrioventricular septal defect with a common atrium and univentricular AV connection, total anomalous pulmonary drainage, and transposition or malposition of the great arteries. Affected individuals present at birth with severe cardiac failure. Other associated abnormalities include bilateral trilobed lungs, midline liver, and asplenia, as well as situs inversus affecting other organs. Left atrial isomerism (LAI) is a related disorder with a somewhat better prognosis. LAI is characterized by bilateral superior vena cava, interruption of the intrahepatic portion of the inferior vena cava, partial anomalous pulmonary venous drainage, and ventricular septal defect. Patients with LAI may have polysplenia and bilateral bilobed lungs, as well as situs inversus affecting other organs. Both RAI and LAI malformation complexes have classically been referred to as Ivemark syndrome (summary by Eronen et al., 2004 and Kaasinen et al., 2010).

IVEMARK SYNDROME Is also known as ivemark syndrome|asplenia with cardiovascular anomalies|right isomerism

Related symptoms:

  • Growth delay
  • Hypertelorism
  • Low-set ears
  • Flexion contracture
  • Intrauterine growth retardation


SOURCES: OMIM ORPHANET MENDELIAN

More info about IVEMARK SYNDROME

Other less relevant matches:

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Cryptorchidism
  • Low-set ears


SOURCES: OMIM MENDELIAN

More info about GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES; GRDF

Related symptoms:

  • Global developmental delay
  • Short stature
  • Microcephaly
  • Growth delay
  • Failure to thrive


SOURCES: OMIM MENDELIAN

More info about SECKEL SYNDROME 9; SCKL9

X-linked lissencephaly with abnormal genitalia (XLAG) is a rare, genetic, central nervous system malformation disorder characterized, in males, by lissencephaly (with posterior predominance and moderately thickened cortex), complete absence of corpus callosum, neonatal-onset (mainly perinatal) intractable seizures, postnatal microcephaly, severe hypotonia, poor responsiveness and hypogonadism (micropenis, hypospadias, cryptorchidism, small scrotal sac). Defective temperature regulation and chronic diarrhea may be additionally observed.

X-LINKED LISSENCEPHALY WITH ABNORMAL GENITALIA Is also known as xlisg|xlag (x-linked lissencephaly with abnormal genitalia) syndrome|lissencephaly, x-linked, with ambiguous genitalia|x-linked lissencephaly-corpus callosum agenesis-genital anomalies syndrome|xlag|x-linked lissencephaly with ambiguous genitalia

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about X-LINKED LISSENCEPHALY WITH ABNORMAL GENITALIA

Medium match MECKEL SYNDROME

Meckel syndrome (MKS) is a rare, lethal, genetic, multiple congenital anomaly disorder characterized by the triad of brain malformation (mainly occipital encephalocele), large polycystic kidneys, and polydactyly, as well as associated abnormalities that may include cleft lip/palate, cardiac and genital anomalies, central nervous system (CNS) malformations, liver fibrosis, and bone dysplasia.

MECKEL SYNDROME Is also known as meckel-gruber syndrome

Related symptoms:

  • Microcephaly
  • Hypertelorism
  • Micrognathia
  • Cleft palate
  • Cataract


SOURCES: ORPHANET MENDELIAN

More info about MECKEL SYNDROME

Medium match FRASER SYNDROME

Fraser syndrome is a rare clinical entity including as main characteristics cryptophthalmos and syndactyly.

FRASER SYNDROME Is also known as cryptophthalmos-syndactyly syndrome

Related symptoms:

  • Intellectual disability
  • Microcephaly
  • Hypertelorism
  • Cryptorchidism
  • High palate


SOURCES: ORPHANET MENDELIAN

More info about FRASER SYNDROME

CAKUTHED is an autosomal dominant highly pleiotropic developmental disorder characterized mainly by variable congenital anomalies of the kidney and urinary tract, sometimes resulting in renal dysfunction or failure, dysmorphic facial features, and abnormalities of the outer ear, often with hearing loss. Most patients have global developmental delay (summary by Heidet et al., 2017 and Slavotinek et al., 2017).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT SYNDROME WITH OR WITHOUT HEARING LOSS, ABNORMAL EARS, OR DEVELOPMENTAL DELAY; CAKUTHED

Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency is a unique form of congenital adrenal hyperplasia (CAH; see this term) characterized by glucocorticoid deficiency, severe sexual ambiguity in both sexes and skeletal (especially craniofacial) malformations.

CONGENITAL ADRENAL HYPERPLASIA DUE TO CYTOCHROME P450 OXIDOREDUCTASE DEFICIENCY Is also known as disordered steroidogenesis due to por deficiency|congenital adrenal hyperplasia due to cytochrome por deficiency|pord|adrenal hyperplasia, congenital, due to cytochrome p450 oxidoreductase deficiency|por deficiency

Related symptoms:

  • Short stature
  • Scoliosis
  • Cryptorchidism
  • Low-set ears
  • Flexion contracture


SOURCES: OMIM ORPHANET MENDELIAN

More info about CONGENITAL ADRENAL HYPERPLASIA DUE TO CYTOCHROME P450 OXIDOREDUCTASE DEFICIENCY

Top 5 symptoms//phenotypes associated to Low-set ears and Ambiguous genitalia

Symptoms // Phenotype % cases
Cryptorchidism Common - Between 50% and 80% cases
Microcephaly Uncommon - Between 30% and 50% cases
Hypospadias Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Micropenis Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Short stature Wide nasal bridge Micrognathia Growth delay Ventricular septal defect Hypertelorism Abnormality of cardiovascular system morphology Ventriculomegaly Flexion contracture Abnormal cardiac septum morphology Intrauterine growth retardation Cleft palate Multicystic kidney dysplasia Agenesis of corpus callosum Generalized hypotonia Oligohydramnios Motor delay Intellectual disability Oral cleft Pulmonary hypoplasia

Rare Symptoms - Less than 30% cases

Prominent forehead High palate Pachygyria Atrial septal defect Anal atresia Low-set, posteriorly rotated ears Abnormal lung lobation Long face Microphthalmia Choanal stenosis Asplenia Respiratory failure Scoliosis Abnormal vagina morphology Thin upper lip vermilion Decreased testicular size Hypoplasia of penis Feeding difficulties Feeding difficulties in infancy Frontal bossing Patent ductus arteriosus Narrow face Delayed skeletal maturation Recurrent urinary tract infections Situs inversus totalis Clitoral hypertrophy Cleft upper lip Cleft lip Pulmonic stenosis Renal agenesis Congenital diaphragmatic hernia Urethral atresia Renal hypoplasia Abnormal facial shape Hydrocephalus Midface retrusion Abnormality of the pinna Male pseudohermaphroditism Abnormality of the skeletal system Wide intermamillary distance Encephalocele Anophthalmia Adrenal hypoplasia Scrotal hypoplasia Aplasia/Hypoplasia of the corpus callosum Vesicoureteral reflux Autism Abnormality of the nervous system Abnormality of the kidney Laryngeal stenosis Autistic behavior Subglottic stenosis Microtia Poor speech Stage 5 chronic kidney disease Renal dysplasia Underdeveloped nasal alae Dilatation Dental malocclusion Spina bifida Toe syndactyly Horseshoe kidney Spina bifida occulta Finger syndactyly Abnormality of the urinary system Chronic kidney disease Bifid tongue Abnormal hair pattern Omphalocele Renal insufficiency Dental crowding Delayed speech and language development Ectopic anus Female pseudohermaphroditism Cryptophthalmos Cleft ala nasi Wide pubic symphysis Lacrimal duct aplasia Midline nasal groove Malformed lacrimal duct Hearing impairment Abnormality of the middle ear Strabismus Tracheal stenosis Calvarial skull defect Myelomeningocele Deep philtrum External ear malformation Anal stenosis Epicanthus Vaginal atresia Vertebral segmentation defect Anteverted nares Atresia of the external auditory canal Respiratory insufficiency Hypoplasia of the corpus callosum Bicornuate uterus Choanal atresia Ectopic kidney Adrenogenital syndrome Ovarian cyst Absence of secondary sex characteristics Decreased serum estradiol Perineal hypospadias Ambiguous genitalia, male Urogenital sinus anomaly Abnormality of the menstrual cycle Enlarged polycystic ovaries Increased circulating ACTH level Congenital adrenal hyperplasia Decreased fertility in females Ambiguous genitalia, female Increased serum testosterone level Hypoplasia of the vagina Adrenocorticotropic hormone excess Decreased circulating cortisol level Increased circulating androgen level Androgen insufficiency Ectopic adrenal gland Abnormality of the labia majora Hyperpigmented genitalia Female sexual dysfunction Abnormality of prenatal development or birth Decreased circulating androgen level Premature adrenarche Enlarged ovaries Pear-shaped nose Abnormal sex determination Congenital adrenal hypoplasia Decreased fertility in males Female external genitalia in individual with 46,XY karyotype Decreased serum testosterone level Adrenal hyperplasia Poor eye contact Broad forehead Thickened helices Hyperechogenic kidneys Anteverted ears Uterus didelphys Hypoplastic helices Urethral valve Bifid ureter Decreased numbers of nephrons Hypertension Clinodactyly Osteoporosis Brachycephaly Narrow mouth Craniosynostosis Delayed puberty Primary adrenal insufficiency Bifid scrotum Aortic root aneurysm Generalized hyperpigmentation Decreased fertility Femoral bowing Disproportionate tall stature Flat occiput Acne Arachnodactyly Polycystic ovaries Reduced bone mineral density Accelerated skeletal maturation Tall stature Umbilical hernia Hirsutism Conductive hearing impairment Type I lissencephaly Blindness Decreased body weight Abdominal situs inversus Heterotaxy Total anomalous pulmonary venous return Biliary atresia Common atrium Single ventricle Left atrial isomerism Bilateral trilobed lungs Right atrial isomerism Macrocephaly Retrognathia Small hand Triangular face Finger clinodactyly Complete atrioventricular canal defect Relative macrocephaly Pterygium Melanocytic nevus Unilateral cryptorchidism Penoscrotal hypospadias Failure to thrive Talipes equinovarus Respiratory distress Immunodeficiency Hernia Recurrent respiratory infections Polyhydramnios Protruding ear Anomalous pulmonary venous return Pulmonary artery atresia Asthma Deeply set eye Pulmonary artery stenosis Sex reversal Abnormality of the adrenal glands Abnormality of the penis Ovotestis Hypoplasia of the bladder Bilateral lung agenesis Malrotation of small bowel Adrenal gland agenesis Brachydactyly Malar flattening Syndactyly Polydactyly Micromelia Polysplenia Postaxial polydactyly Sandal gap Holoprosencephaly Depressed nasal tip Barrel-shaped chest Shield chest Ulnar deviation of the hand Microphallus Ulnar deviation of the hand or of fingers of the hand Congestive heart failure Abnormal heart morphology Dextrocardia Atrioventricular canal defect Small for gestational age Convex nasal ridge Depressed nasal bridge Anencephaly Abnormality of temperature regulation Temperature instability Cataract Optic atrophy Talipes Microcornea Full cheeks Dandy-Walker malformation Postaxial hand polydactyly Sloping forehead Depressed nasal ridge Bowing of the long bones Preaxial hand polydactyly Postaxial foot polydactyly Long upper lip Sclerocornea Furrowed tongue Congenital hepatic fibrosis Ureteral duplication Pancreatic cysts Accessory spleen Aplasia/Hypoplasia of the iris Abnormal chorioretinal morphology Aplasia/Hypoplasia of the tongue Pancreatic fibrosis True hermaphroditism Lobar holoprosencephaly Cystic liver disease Duane anomaly Hydranencephaly Decreased fetal movement Hyperactivity Hypertrichosis Abnormal lung morphology Cortical gyral simplification Scaphocephaly Recurrent lower respiratory tract infections Chronic lung disease Pulmonary artery hypoplasia Seizures Muscular hypotonia Spasticity Hyperreflexia Diarrhea Long philtrum High forehead Profound global developmental delay Prominent nasal bridge Severe global developmental delay Malabsorption Gliosis Specific learning disability Aganglionic megacolon Postnatal microcephaly Chronic diarrhea Hypohidrosis Wide anterior fontanel Lissencephaly Infantile spasms Exocrine pancreatic insufficiency Maternal virilization in pregnancy


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Abnormality of the skeletal system and Short metacarpal, related diseases and genetic alterations Dysarthria and Osteoarthritis, related diseases and genetic alterations Congestive heart failure and Photophobia, related diseases and genetic alterations