Low-set ears, and Umbilical hernia

Diseases related with Low-set ears and Umbilical hernia

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


Top 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 TALL STATURE-INTELLECTUAL DISABILITY-FACIAL DYSMORPHISM SYNDROME


Tatton-Brown-Rahman syndrome is characterized by tall stature, a distinctive facial appearance, and intellectual disability (Tatton-Brown et al., 2014).

TALL STATURE-INTELLECTUAL DISABILITY-FACIAL DYSMORPHISM SYNDROME Is also known as dnmt3a-related overgrowth syndrome|tatton-brown-rahman overgrowth syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Generalized hypotonia
  • Scoliosis


SOURCES: ORPHANET OMIM MENDELIAN

More info about TALL STATURE-INTELLECTUAL DISABILITY-FACIAL DYSMORPHISM SYNDROME

High match 3MC SYNDROME


3MC syndrome describes a rare developmental disorder, that unifies the overlapping autosomal recessive disorders previously known as Carnevale, Mingarelli, Malpuech and Michels syndromes, characterized by a spectrum of developmental anomalies that include distinctive facial dysmorphism (i.e. hypertelorism, blepharophimosis, blepharoptosis, highly arched eyebrows), cleft lip and/or palate, craniosynostosis, learning disability, radioulnar synostosis and genital and vesicorenal anomalies. Less common features reported include anterior chamber defects, cardiac anomalies (e.g. ventricular septal defect; see this term), caudal appendage, umbilical hernia/omphalocele and diastasis recti.

3MC SYNDROME Is also known as craniofacial-ulnar-renal syndrome|malpuech-michels-mingarelli-carnevale syndrome

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Ptosis


SOURCES: ORPHANET MENDELIAN

More info about 3MC SYNDROME

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Other less relevant matches:

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 DEAFNESS-INTELLECTUAL DISABILITY SYNDROME, MARTIN-PROBST TYPE


Deafness-intellectual disability syndrome, Martin-Probst type is characterised by severe bilateral deafness, intellectual deficit, umbilical hernia and abnormal dermatoglyphics. It has been described in three males from three generations of one family. Mild facial dysmorphism (telangiectasias, hypertelorism, dental anomalies and a wide nasal root) was also present. Short stature, pancytopaenia, microcephaly, and renal and genitourinary anomalies were present in some of the patients. The mode of transmission is X-linked recessive and the causative gene has been localised to the q1-21 region of the X chromosome.

DEAFNESS-INTELLECTUAL DISABILITY SYNDROME, MARTIN-PROBST TYPE Is also known as martin-probst deafness-mental retardation syndrome|x-linked deafness-intellectual disability syndrome syndrome|martin-probst syndrome

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Hypertelorism


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about DEAFNESS-INTELLECTUAL DISABILITY SYNDROME, MARTIN-PROBST TYPE

High match ICF SYNDROME


The Immunodeficiency, Centromeric region instability, Facial anomalies syndrome (ICF) is a rare autosomal recessive disease characterized by immunodeficiency, although B cells are present, and by characteristic rearrangements in the vicinity of the centromeres (the juxtacentromeric heterochromatin) of chromosomes 1 and 16 and sometimes 9.

ICF SYNDROME Is also known as centromeric instability, immunodeficiency syndrome|immune deficiency, variable, with centromeric instability of chromosomes 1, 9, and 16|ciid|immunodeficiency-centromeric instability-facial anomalies syndrome|immunodeficiency syndrome, variable

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hypertelorism
  • Failure to thrive


SOURCES: ORPHANET OMIM MENDELIAN

More info about ICF SYNDROME

High 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

High match NEONATAL DIABETES-CONGENITAL HYPOTHYROIDISM-CONGENITAL GLAUCOMA-HEPATIC FIBROSIS-POLYCYSTIC KIDNEYS SYNDROME


A syndrome associating neonatal diabetes, congenital hypothyroidism, congenital glaucoma, hepatopathy evolving to fibrosis and polykystic kidneys has been described in two sibs. Minor facial anomalies were also observed. Two other families presented incomplete forms of this syndrome. Mutations in GLIS3 encoding for the transcription factor GLI similar 3 seem to be responsible of the syndrome.

NEONATAL DIABETES-CONGENITAL HYPOTHYROIDISM-CONGENITAL GLAUCOMA-HEPATIC FIBROSIS-POLYCYSTIC KIDNEYS SYNDROME Is also known as ndh syndrome

Related symptoms:

  • Global developmental delay
  • Hearing impairment
  • Growth delay
  • Sensorineural hearing impairment
  • Abnormal facial shape


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about NEONATAL DIABETES-CONGENITAL HYPOTHYROIDISM-CONGENITAL GLAUCOMA-HEPATIC FIBROSIS-POLYCYSTIC KIDNEYS SYNDROME

High match MUCOPOLYSACCHARIDOSIS, TYPE IIIC; MPS3C


Sanfilippo syndrome comprises several forms of lysosomal storage diseases due to impaired degradation of heparan sulfate. The deficient enzyme in Sanfilippo syndrome C, or MPS IIIC, is an acetyltransferase that catalyzes the conversion of alpha-glucosaminide residues to N-acetylglucosaminide in the presence of acetyl-CoA.For a general phenotypic description and a discussion of genetic heterogeneity of Sanfilippo syndrome, see MPS IIIA (OMIM ).

MUCOPOLYSACCHARIDOSIS, TYPE IIIC; MPS3C Is also known as sanfilippo syndrome c|mps iiic|acetyl-coa:alpha-glucosaminide n-acetyltransferase deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Hypertelorism


SOURCES: OMIM MENDELIAN

More info about MUCOPOLYSACCHARIDOSIS, TYPE IIIC; MPS3C

High match AUTOSOMAL RECESSIVE OMODYSPLASIA


Omodysplasia-1 (OMOD1) is a rare autosomal recessive skeletal dysplasia characterized by severe congenital micromelia with shortening and distal tapering of the humeri and femora to give a club-like appearance. Typical facial features include a prominent forehead, frontal bossing, short nose with a depressed broad bridge, short columella, anteverted nostrils, long philtrum, and small chin. Variable findings are cryptorchidism, hernias, congenital heart defects, and cognitive delay (Elcioglu et al., 2004; Albano et al., 2007). Genetic Heterogeneity of OmodysplasiaIn an autosomal dominant form of omodysplasia (OMOD2 ), abnormalities are limited to the upper limbs. The facial changes and typical growth defect of the distal humerus with complex deformity of the elbows appear to be similar in both entities (Baxova et al., 1994).

AUTOSOMAL RECESSIVE OMODYSPLASIA Is also known as omodysplasia, generalized form|micromelic dysplasia-dislocation of radius syndrome|omodysplasia, autosomal recessive|micromelic dysplasia, congenital, with dislocation of radius

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Micrognathia
  • Cryptorchidism


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE OMODYSPLASIA

Top 5 symptoms//phenotypes associated to Low-set ears and Umbilical hernia

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Hypertelorism Common - Between 50% and 80% cases
Depressed nasal bridge Uncommon - Between 30% and 50% cases
Hernia Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Epicanthus Anteverted nares Hearing impairment Micrognathia Global developmental delay Cryptorchidism Blepharophimosis Everted lower lip vermilion Abnormal facial shape Craniosynostosis Malar flattening Abnormality of cardiovascular system morphology Wide nasal bridge Microcephaly Atrial septal defect Low-set, posteriorly rotated ears

Rare Symptoms - Less than 30% cases


Long philtrum Failure to thrive Hyperlordosis Telecanthus Hypothyroidism Splenomegaly Recurrent infections Oral cleft Sepsis Flat face Respiratory tract infection Pneumonia Hypospadias Narrow palpebral fissure Short nose Diarrhea Joint stiffness Renal hypoplasia Sensorineural hearing impairment Hypoplasia of penis Wide intermamillary distance Dental malocclusion Short columella Hepatomegaly Abnormal dermatoglyphics Broad forehead Seizures Scoliosis Macrocephaly Ventricular septal defect Thick eyebrow Wide anterior fontanel Coarse facial features Mandibular prognathia Intrauterine growth retardation Round face Polycystic kidney dysplasia Tracheal stenosis Renal cyst Myelomeningocele Hepatitis Bilateral sensorineural hearing impairment Choanal atresia Cholestasis Hepatic fibrosis Congenital hypothyroidism Portal hypertension Congenital glaucoma Anal stenosis Abnormal lung lobation Vertebral segmentation defect Enlarged kidney Calvarial skull defect Thoracolumbar scoliosis External ear malformation Hiatus hernia Midline nasal groove Bicornuate uterus Ectopic anus Respiratory failure Malformed lacrimal duct Growth delay Wide pubic symphysis Hypertension Cleft ala nasi Abnormality of the skeletal system Cryptophthalmos Urethral atresia Diabetes mellitus Glaucoma Female pseudohermaphroditism Osteopenia Bifid tongue Abnormality of the middle ear Thin upper lip vermilion Laryngeal stenosis Abnormality of the kidney Abnormality of the liver Subglottic stenosis Abnormal vagina morphology Vaginal atresia Cirrhosis Lacrimal duct aplasia Abnormal hair pattern Esophageal varix Synophrys Buphthalmos Fibular hypoplasia Skeletal dysplasia Micromelia Limb undergrowth Abnormality of the metaphysis Rhizomelia Short chin Hemangioma Disproportionate short-limb short stature Pterygium Elbow dislocation Mesomelia Limited elbow extension Dislocated radial head Short humerus Pulmonary artery stenosis Posteriorly rotated ears Axillary pterygium Limited knee flexion/extension Limited elbow flexion/extension Hypoplastic distal humeri Limited knee flexion Increased fibular diameter Limited knee extension Limited elbow flexion Short tibia Limited hip movement Severe short-limb dwarfism Popliteal pterygium Abnormality of the radius Increased nuchal translucency Abnormality of femur morphology Prominent forehead Severe short stature Sagittal craniosynostosis Sleep disturbance Cystic renal dysplasia Pancreatic cysts Pancreatic hypoplasia Splenic cyst Motor delay Dysphagia Behavioral abnormality Rod-cone dystrophy Hyperactivity Kyphoscoliosis Hepatosplenomegaly Dolichocephaly Atresia of the external auditory canal Hirsutism Hypertrichosis Abnormal heart morphology Heparan sulfate excretion in urine Short neck Frontal bossing Cellular metachromasia Dense calvaria Ovoid thoracolumbar vertebrae Thickened ribs Asymmetric septal hypertrophy Growth abnormality Motor deterioration Dysostosis multiplex Loss of speech Restlessness Recurrent upper respiratory tract infections Coarse hair Anophthalmia Combined immunodeficiency Scrotal hypoplasia Caudal appendage Abnormality of the pinna Hip dislocation Downturned corners of mouth Highly arched eyebrow Spina bifida occulta Radioulnar synostosis Bilateral cryptorchidism Supernumerary nipple Diastasis recti Abnormal anterior chamber morphology Abnormal nasal morphology Epicanthus inversus Large fleshy ears Downslanted palpebral fissures Limited pronation/supination of forearm Prominent coccyx Cleft palate Camptodactyly of finger Prominent nasal bridge Narrow chest Arachnodactyly Abdominal distention Vesicoureteral reflux Aganglionic megacolon Hydroureter Anonychia Hyperparathyroidism Postnatal growth retardation Ptosis Abdominal situs inversus Prematurely aged appearance Strabismus Sparse hair Short distal phalanx of finger Abnormality of the hair Abnormality of the nail Generalized hirsutism Cutis laxa Reduced number of teeth Redundant skin Brittle hair Reduced subcutaneous adipose tissue Lipoatrophy Decreased skull ossification Premature rupture of membranes Shagreen patch Long eyelashes in irregular rows Generalized hypotonia Hydrocephalus Polyhydramnios Abnormal cardiac septum morphology Premature birth Overgrowth Tall stature Deep philtrum Long palpebral fissure Maternal diabetes Everted upper lip vermilion Aplasia/Hypoplasia of the abdominal wall musculature Megacystis Multicystic kidney dysplasia Impaired T cell function Recurrent pneumonia Malnutrition Bronchitis Protruding tongue Shawl scrotum Agammaglobulinemia Communicating hydrocephalus Chronic bronchitis Cellular immunodeficiency Abnormality of chromosome stability Decrease in T cell count Abnormality of neutrophils High palate Sinusitis Blindness Microphthalmia Conductive hearing impairment Finger syndactyly Toe syndactyly Anal atresia Cleft upper lip Pulmonary hypoplasia Underdeveloped nasal alae Ambiguous genitalia Omphalocele Encephalocele Dental crowding Lymphopenia Bronchiectasis Cataract Telangiectasia Myopia Intellectual disability, severe Abnormality of the dentition Renal insufficiency Micropenis Proteinuria Intellectual disability, moderate Wide mouth Stage 5 chronic kidney disease Pancytopenia Thick lower lip vermilion Renal dysplasia Bifid scrotum Otitis media Congenital sensorineural hearing impairment Telangiectasia of the skin Hypoplastic nipples Aplasia/Hypoplasia of the nipples Chordee Anemia Immunodeficiency Recurrent respiratory infections High forehead Malabsorption Neurodegeneration Macroglossia Decreased antibody level in blood Anterolateral radial head dislocation



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