Low-set ears, and Pulmonary hypoplasia

Diseases related with Low-set ears and Pulmonary hypoplasia

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


Top matches:

High match TETRAAMELIA SYNDROME 2; TETAMS2


Tetraamelia syndrome-2 (TETAMS2) is characterized by rudimentary appendages or complete absence of the limbs, usually symmetric, as well as bilateral agenesis of the lungs. There are abnormalities of the pulmonary vasculature and dysmorphic features, including bilateral cleft lip/palate, ankyloglossia, mandibular hypoplasia, microretrognathia, and labioscrotal fold aplasia (Szenker-Ravi et al., 2018).For a discussion of genetic heterogeneity of TETAMS, see {273395}.

TETRAAMELIA SYNDROME 2; TETAMS2 Is also known as tetraamelia syndrome 2 with pulmonary agenesis

Related symptoms:

  • Micrognathia
  • Low-set ears
  • Ventricular septal defect
  • Cleft lip
  • Oral cleft


SOURCES: OMIM MENDELIAN

More info about TETRAAMELIA SYNDROME 2; TETAMS2

High match SHORT-RIB THORACIC DYSPLASIA 19 WITH OR WITHOUT POLYDACTYLY; SRTD19


Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by Huber and Cormier-Daire, 2012 and Schmidts et al., 2013).There is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, {218330}).For a discussion of genetic heterogeneity of short-rib thoracic dysplasia with or without polydactyly, see SRTD1 (OMIM ).

Related symptoms:

  • Generalized hypotonia
  • Low-set ears
  • Brachydactyly
  • Ventricular septal defect
  • Respiratory insufficiency


SOURCES: OMIM MENDELIAN

More info about SHORT-RIB THORACIC DYSPLASIA 19 WITH OR WITHOUT POLYDACTYLY; SRTD19

High 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

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Other less relevant matches:

High match LETHAL CONGENITAL CONTRACTURE SYNDROME TYPE 1


Lethal congenital contracture syndrome type 1 is a rare, genetic arthrogryposis syndrome characterized by total fetal akinesia (detectable since the 13th week of gestation) accompanied by hydrops, micrognathia, pulmonary hypoplasia, pterygia and multiple joint contractures (usually flexion contractures in the elbows and extension in the knees), leading invariably to death before the 32nd week of gestation. Lack of anterior horn motoneurons, severe atrophy of the ventral spinal cord and severe skeletal muscle hypoplasia are characteristic neuropathological findings, with no evidence of other organ structural anomalies.

LETHAL CONGENITAL CONTRACTURE SYNDROME TYPE 1 Is also known as herva disease|multiple contracture syndrome, finnish type|lccs|lccs1

Related symptoms:

  • Short stature
  • Hypertelorism
  • Micrognathia
  • Flexion contracture
  • Skeletal muscle atrophy


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about LETHAL CONGENITAL CONTRACTURE SYNDROME TYPE 1

High match SECOND BRANCHIAL CLEFT ANOMALY


Agnathia-otocephaly is a rare condition characterized by mandibular hypoplasia or agnathia, ventromedial auricular malposition (melotia) and/or auricular fusion (synotia), and microstomia with oroglossal hypoplasia or aglossia. Holoprosencephaly is the most commonly identified association, but skeletal, genitourinary, and cardiovascular anomalies, and situs inversus have been reported. The disorder is almost always lethal (review by Faye-Petersen et al., 2006).

SECOND BRANCHIAL CLEFT ANOMALY Is also known as dysgnathia complex agnathia-holoprosencephaly|otocephaly|second branchial cleft cyst|holoprosencephaly-agnathia|second branchial cleft fistula

Related symptoms:

  • Hearing impairment
  • Micrognathia
  • Abnormal facial shape
  • Cleft palate
  • Low-set ears


SOURCES: ORPHANET OMIM MENDELIAN

More info about SECOND BRANCHIAL CLEFT ANOMALY

High match LETHAL CONGENITAL CONTRACTURE SYNDROME 9; LCCS9


Related symptoms:

  • Scoliosis
  • Growth delay
  • Hypertelorism
  • Micrognathia
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about LETHAL CONGENITAL CONTRACTURE SYNDROME 9; LCCS9

High match SEVERE CONGENITAL NEMALINE MYOPATHY


Severe congenital nemaline myopathy is a severe form of nemaline myopathy (NM; see this term) characterized by severe hypotonia with little spontaneous movement in neonates.

Related symptoms:

  • Low-set ears
  • Flexion contracture
  • Motor delay
  • Skeletal muscle atrophy
  • Dysphagia


SOURCES: ORPHANET MENDELIAN

More info about SEVERE CONGENITAL NEMALINE MYOPATHY

High match RENAL AGENESIS, BILATERAL


Bilateral renal agenesis is the most profound form of renal agenesis (see this term), characterized by complete absence of kidney development, absent ureters and subsequent absence of fetal renal function resulting in Potter sequence with pulmonary hypoplasia related to oligohydramnios, which is fatal shortly after birth.

RENAL AGENESIS, BILATERAL Is also known as renal aplasia|renal adysplasia|hereditary renal aplasia|renal agenesis|hra

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about RENAL AGENESIS, BILATERAL

High match AUTOSOMAL RECESSIVE POLYCYSTIC KIDNEY DISEASE


Autosomal recessive polycystic kidney disease (ARPKD) is an inherited disorder characterised by the development of cysts affecting the collecting ducts. It is frequently associated with hepatic involvement.

AUTOSOMAL RECESSIVE POLYCYSTIC KIDNEY DISEASE Is also known as polycystic kidney and hepatic disease 1|polycystic kidney disease, infantile, type i|pkhd1|arpkd|ar-pkd|polycystic kidney disease, autosomal recessive|polycystic kidney disease 4 with or without hepatic disease|pkd3, formerly

Related symptoms:

  • Micrognathia
  • Hypertension
  • Hepatomegaly
  • Ventricular septal defect
  • Respiratory insufficiency


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE POLYCYSTIC KIDNEY DISEASE

High match SHORT-RIB THORACIC DYSPLASIA 14 WITH POLYDACTYLY; SRTD14


Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by Huber and Cormier-Daire, 2012 and Schmidts et al., 2013).There is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, {218330}).For a discussion of genetic heterogeneity of short-rib thoracic dysplasia with or without polydactyly, see SRTD1 (OMIM ).

Related symptoms:

  • Generalized hypotonia
  • Cleft palate
  • Low-set ears
  • Depressed nasal bridge
  • Abnormality of the skeletal system


SOURCES: OMIM MENDELIAN

More info about SHORT-RIB THORACIC DYSPLASIA 14 WITH POLYDACTYLY; SRTD14

Top 5 symptoms//phenotypes associated to Low-set ears and Pulmonary hypoplasia

Symptoms // Phenotype % cases
Micrognathia Uncommon - Between 30% and 50% cases
Polyhydramnios Uncommon - Between 30% and 50% cases
Respiratory failure Uncommon - Between 30% and 50% cases
Ventricular septal defect Uncommon - Between 30% and 50% cases
Cleft lip Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Oral cleft Cleft palate Atrial septal defect Talipes equinovarus Abnormal facial shape Arthrogryposis multiplex congenita Flexion contracture Hypertelorism Oligohydramnios Hypertension Respiratory distress Respiratory insufficiency

Rare Symptoms - Less than 30% cases


Retrognathia Renal agenesis Potter facies Adducted thumb Decreased fetal movement Talipes Abnormality of the kidney Generalized hypotonia Hypospadias Short neck Edema Low-set, posteriorly rotated ears Depressed nasal ridge Depressed nasal bridge Pterygium Abnormality of the thorax Congenital contracture Skeletal muscle atrophy Congenital diaphragmatic hernia Abnormality of cardiovascular system morphology Abnormality of the diaphragm Agenesis of corpus callosum Polydactyly Micropenis Narrow chest Micromelia Postaxial polydactyly Short ribs Intrauterine growth retardation Thoracic hypoplasia Breech presentation Polycystic kidney dysplasia Thoracic dysplasia Growth delay Bilateral lung agenesis Sirenomelia Non-midline cleft lip Bicornuate uterus Vaginal atresia Congestive heart failure Abnormality of female internal genitalia Nonketotic hypoglycemia Urethral obstruction Bilateral renal agenesis Bilateral renal dysplasia Fetal polyuria Hepatomegaly Urogenital fistula Abnormal sacrum morphology Bilateral renal hypoplasia Tracheoesophageal fistula Syndactyly Unilateral renal agenesis Edema of the dorsum of hands Thin ribs Facial diplegia Nemaline bodies Type 1 muscle fiber predominance Increased connective tissue Axial muscle weakness Multiple prenatal fractures Cryptorchidism Abnormality of the genitourinary system Epicanthus Proteinuria Falls Renal hypoplasia Primary amenorrhea Renal dysplasia Multicystic kidney dysplasia Abnormal intestine morphology Splenomegaly Abnormal lung morphology Renal insufficiency Hyporeflexia Hypersplenism Hematemesis Periportal fibrosis Hypoplasia of the ear cartilage Azotemia Absence of renal corticomedullary differentiation Abnormality of the skeletal system Hydrocephalus Hernia Abnormality of the pinna Biliary tract abnormality Coloboma Polymicrogyria Cerebellar vermis hypoplasia Hydrops fetalis Preaxial polydactyly Molar tooth sign on MRI Anencephaly Upper limb undergrowth Retinal coloboma Aplastic clavicle Portal fibrosis Tubulointerstitial fibrosis Dilatation Hepatic fibrosis Macrotia Hepatosplenomegaly Abnormality of the liver Scarring Stage 5 chronic kidney disease Renal cyst Dehydration Cholestasis Severe muscular hypotonia Renal hypoplasia/aplasia Hepatic cysts Chronic kidney disease Portal hypertension Enlarged kidney Multiple renal cysts Chronic lung disease Atelectasis Esophageal varix Cholangitis Congenital hepatic fibrosis Pancreatic cysts Hypokinesia Joint contracture of the hand Large fontanelles Abnormality of the elbow Webbed neck Abnormality of the ribs Abnormal form of the vertebral bodies Spinal muscular atrophy Akinesia Multiple joint contractures Abnormality of the hip bone Slender long bone Fetal akinesia sequence Recurrent fractures Abnormal cortical bone morphology Amniotic constriction ring Hypoplasia of the musculature Abnormality of the amniotic fluid Abnormality of the spinal cord Widening of cervical spinal canal Paucity of anterior horn motor neurons Hearing impairment Downslanted palpebral fissures Limitation of joint mobility Tetraamelia Bilateral cleft lip Pulmonic stenosis Prominent forehead Long philtrum Dolichocephaly Hypoplasia of the radius Relative macrocephaly Prominent occiput Hypoplastic ilia Lateral clavicle hook Horizontal ribs Pulmonary artery stenosis Hypoplastic pulmonary veins Sex reversal Abnormality of the adrenal glands Abnormality of the penis Ovotestis Hypoplasia of the bladder Malrotation of small bowel Adrenal gland agenesis Short stature Brachydactyly Ankyloglossia Abnormal heart morphology Premature birth Bilateral talipes equinovarus Microretrognathia Anteverted nares Myopathy Kyphoscoliosis Thin upper lip vermilion Camptodactyly Triangular face Midface retrusion Ankylosis Synotia Cardiorespiratory arrest Preeclampsia Ulnar deviation of the hand Thoracic kyphoscoliosis Short umbilical cord Motor delay Dysphagia Facial palsy Ophthalmoplegia Scoliosis Aglossia Posteriorly rotated ears Abnormality of the outer ear Narrow mouth Conductive hearing impairment Abnormality of the eye Anal atresia Hypoplasia of the maxilla Intestinal malrotation Hypotelorism Situs inversus totalis Holoprosencephaly Atresia of the external auditory canal Proboscis Transposition of the great arteries Tracheomalacia Microglossia Stenosis of the external auditory canal Hyperplasia of the maxilla Mandibular aplasia Hypoplasia of the epiglottis Laryngeal hypoplasia Alobar holoprosencephaly Short upper lip



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