Micrognathia, and Renal dysplasia

Diseases related with Micrognathia and Renal dysplasia

In the following list you will find some of the most common rare diseases related to Micrognathia and Renal dysplasia that can help you solving undiagnosed cases.

Top matches:

MARCH is an autosomal recessive lethal congenital disorder characterized by severe hydranencephaly with almost complete absence of the cerebral hemispheres, which are replaced by fluid, relative preservation of the posterior fossa structures, and renal dysplasia or agenesis. Affected fetuses either die in utero or shortly after birth, and show arthrogryposis and features consistent with anhydramnios. Histologic examination of residual brain tissue shows multinucleated neurons resulting from impaired cytokinesis (summary by Frosk et al., 2017).

MULTINUCLEATED NEURONS-ANHYDRAMNIOS-RENAL DYSPLASIA-CEREBELLAR HYPOPLASIA-HYDRANENCEPHALY SYNDROME Is also known as hydranencephaly with renal aplasia-dysplasia|march syndrome

Related symptoms:

  • Flexion contracture
  • Talipes equinovarus
  • Syndactyly
  • Clinodactyly
  • Clinodactyly of the 5th finger


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about MULTINUCLEATED NEURONS-ANHYDRAMNIOS-RENAL DYSPLASIA-CEREBELLAR HYPOPLASIA-HYDRANENCEPHALY SYNDROME

Choanal atresia - deafness - cardiac defects - dysmorphism syndrome, also known as Burn-McKeown syndrome, is an extremely rare multiple congenital anomaly syndrome characterized by bilateral choanal atresia (see this term) associated with a characteristic cranio-facial dysmorphism (hypertelorism with narrow palpebral fissures, coloboma of inferior eyelid (see this term) with presence of eyelashes medial to the defect, prominent nasal bridge, thin lips, prominent ears), that can be accompanied by hearing loss, unilateral cleft lip, preauricular tags, cardiac septal defects and anomalies of the kidneys. The features of this syndrome overlaps considerably with those of the CHARGE syndrome (see this term).

CHOANAL ATRESIA-HEARING LOSS-CARDIAC DEFECTS-CRANIOFACIAL DYSMORPHISM SYNDROME Is also known as oculootofacial dysplasia|burn-mckeown syndrome|oofd

Related symptoms:

  • Short stature
  • Hearing impairment
  • Hypertelorism
  • Micrognathia
  • Sensorineural hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about CHOANAL ATRESIA-HEARING LOSS-CARDIAC DEFECTS-CRANIOFACIAL DYSMORPHISM SYNDROME

Related symptoms:

  • Neoplasm
  • Micrognathia
  • Cleft palate
  • Depressed nasal bridge
  • Macrocephaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about HYPOTHALAMIC HAMARTOMAS

Other less relevant matches:

Congenital chronic diarrhea with protein-losing enteropathy is a rare, genetic, intestinal disease characterized by early-onset, chronic, non-infectious, non-bloody, watery diarrhea associated with protein-losing enteropathy which results in hypoalbuminemia, hypogammaglobulinemia and elevated stool alpha-1-antitrypsin. Patients typically present severe, intractable diarrhea, failure to thrive, recurrent infections and edema.

CONGENITAL CHRONIC DIARRHEA WITH PROTEIN-LOSING ENTEROPATHY Is also known as congenital chronic diarrhea with exudative enteropathy

Related symptoms:

  • Pain
  • Vomiting
  • Diarrhea
  • Acidosis
  • Metabolic acidosis


SOURCES: OMIM ORPHANET MENDELIAN

More info about CONGENITAL CHRONIC DIARRHEA WITH PROTEIN-LOSING ENTEROPATHY

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

Medium match TETRA-AMELIA

Tetraamelia syndrome-1 is characterized by complete limb agenesis without defects of scapulae or clavicles. Other features include bilateral cleft lip/palate, diaphragmatic defect with bilobar right lung, renal and adrenal agenesis, pelvic hypoplasia, and urogenital defects (Niemann et al., 2004). Genetic Heterogeneity of tetraamelia syndromeTetraamelia syndrome-2 (TETAMS2 ) is caused by mutation in the RSPO2 gene (OMIM ) on chromosome 8q23.

TETRA-AMELIA Is also known as total amelia|tetraamelia syndrome, autosomal recessive

Related symptoms:

  • Micrognathia
  • Cleft palate
  • Cataract
  • Low-set ears
  • Hydrocephalus


SOURCES: OMIM ORPHANET MENDELIAN

More info about TETRA-AMELIA

Penoscrotal transposition (PST) is a rare congenital genital anomaly in which the scrotum is positioned superior and anterior to the penis. PST may present with a broad spectrum of anomalies ranging from simple shawl scrotum (doughnut scrotum) to very complex extreme transposition with craniofacial, central nervous system, cardiac, gastrointestinal, urological, and other genital (undescended testicles, hypospadias, chordee) malformations. Growth deficiency and intellectual disability may also be noticed (60% of cases).

PENOSCROTAL TRANSPOSITION Is also known as dihydrotestosterone receptor deficiency|testicular feminization syndrome|androgen receptor deficiency|dhtr deficiency|ar deficiency|tfm

Related symptoms:

  • Intellectual disability
  • Neoplasm
  • Micrognathia
  • Cryptorchidism
  • Epicanthus


SOURCES: OMIM ORPHANET MENDELIAN

More info about PENOSCROTAL TRANSPOSITION

Related symptoms:

  • Hypertelorism
  • Cleft palate
  • Cryptorchidism
  • Respiratory insufficiency
  • Microphthalmia


SOURCES: OMIM MENDELIAN

More info about SHORT-RIB THORACIC DYSPLASIA 13 WITH OR WITHOUT POLYDACTYLY; SRTD13

Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis is an X-linked recessive disorder with onset of features in early childhood. Anemia is sometimes present. Some patients may show mild early motor or speech delay, but cognition is normal (summary by Andreoletti et al., 2017).

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Micrognathia


SOURCES: OMIM MENDELIAN

More info about MIDFACE HYPOPLASIA, HEARING IMPAIRMENT, ELLIPTOCYTOSIS, AND NEPHROCALCINOSIS; MFHIEN

RAPP-HODGKIN SYNDROME; RHS Is also known as ectodermal dysplasia, anhidrotic, with cleft lip/palate

Related symptoms:

  • Short stature
  • Hearing impairment
  • Micrognathia
  • Cleft palate
  • Ptosis


SOURCES: OMIM ORPHANET MENDELIAN

More info about RAPP-HODGKIN SYNDROME; RHS

Top 5 symptoms//phenotypes associated to Micrognathia and Renal dysplasia

Symptoms // Phenotype % cases
Cleft palate Common - Between 50% and 80% cases
Pulmonary hypoplasia Uncommon - Between 30% and 50% cases
Hearing impairment Uncommon - Between 30% and 50% cases
Clinodactyly of the 5th finger Uncommon - Between 30% and 50% cases
Cleft lip Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Micrognathia and Renal dysplasia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Short stature Renal hypoplasia Malar flattening Hypertelorism Sensorineural hearing impairment Wide nasal bridge Cryptorchidism Hernia Narrow mouth Anal atresia Cleft upper lip Patent ductus arteriosus Micropenis Intellectual disability Cataract Conductive hearing impairment Bifid uvula Renal agenesis

Rare Symptoms - Less than 30% cases

Hypoplastic pelvis Wide intermamillary distance Skeletal dysplasia Thin vermilion border Hypoplasia of the maxilla Low-set ears Prominent nose Underdeveloped nasal alae Midface retrusion Choanal atresia Mixed hearing impairment Protruding ear Talipes equinovarus Bifid scrotum Occipital encephalocele Abnormality of the genital system Short ribs Neoplasm Depressed nasal bridge Polydactyly Hydrocephalus Microphthalmia Blepharophimosis Cerebellar hypoplasia Renal cyst Microretrognathia Ventricular septal defect Hypospadias Syndactyly Talipes Abnormal facial shape Ambiguous genitalia Epicanthus Delayed eruption of teeth Finger clinodactyly Inguinal hernia Clinodactyly 2-3 toe syndactyly Short nose Unicoronal synostosis Thoracic hypoplasia Short neck Preaxial polydactyly Relative macrocephaly Molar tooth sign on MRI Bell-shaped thorax Natal tooth Flat acetabular roof Thoracic dysplasia Downslanted palpebral fissures Delayed speech and language development Anemia Strabismus Generalized hypotonia Bifid tongue Cleft soft palate Lobulated tongue Squared iliac bones Hypoplastic facial bones Horizontal ribs Perineal hypospadias Spontaneous abortion Incomplete male pseudohermaphroditism Nephrogenic diabetes insipidus Abnormality of the urethra Pseudohypoparathyroidism Elevated circulating luteinizing hormone level Aplasia of the uterus Penoscrotal hypospadias Menstrual irregularities Abnormal external genitalia Female external genitalia in individual with 46,XY karyotype Patellar aplasia Absent facial hair Blind vagina Penoscrotal transposition Scrotal hypospadias Rhizomelia Respiratory insufficiency Elevated circulating follicle stimulating hormone level Labial hypoplasia Respiratory failure Macrotia Coarse facial features Narrow chest Postaxial polydactyly Dimple chin Limb undergrowth Cerebellar vermis hypoplasia Encephalocele Omphalocele Bowing of the long bones Dandy-Walker malformation High forehead Pes planus Conical tooth Widely spaced teeth Coarse hair Abnormality of the voice Supernumerary nipple Non-midline cleft lip Ectrodactyly Submucous cleft hard palate Generalized hyperpigmentation Narrow nose Hypoplastic labia majora Dystrophic toenail Pili torti Dystrophic fingernails Thick nail Abnormality of dental enamel Dry hair Cystic renal dysplasia Anhidrotic ectodermal dysplasia Hypohidrotic ectodermal dysplasia Ankyloblepharon Hyperconvex nail Velopharyngeal insufficiency Trichodysplasia Hyperconvex fingernails Absent lacrimal punctum Pili canaliculi Submucous cleft soft palate Small, conical teeth Progressive alopecia Sparse eyelashes Sparse and thin eyebrow Thin upper lip vermilion Broad distal phalanx of finger Hydronephrosis Broad forehead Synophrys Joint hypermobility Flat face Esotropia Dental crowding Nephrocalcinosis Hypercalciuria Patent foramen ovale Severe sensorineural hearing impairment Large forehead Elliptocytosis Mild conductive hearing impairment Hypohidrosis Cleft hard palate Ptosis Alopecia Sparse axillary hair Sparse hair Finger syndactyly Hypotrichosis Palmoplantar keratoderma Hypodontia Ectodermal dysplasia Small nail Fine hair Recurrent otitis media Thin skin Sparse pubic hair Flexion contracture Male pseudohermaphroditism Median cleft lip Unilateral cleft lip Median cleft palate Bilateral choanal atresia Lower eyelid coloboma Bilateral choanal atresia/stenosis Macrocephaly Abnormality of cardiovascular system morphology Abnormal heart morphology Hip dislocation Micromelia Postaxial hand polydactyly Hamartoma Microglossia Hypomimic face Anterior hypopituitarism Glioma Hypothalamic hamartoma Pain Vomiting Diarrhea Acidosis Metabolic acidosis Sepsis Hyperlipidemia Abnormal intestine morphology Hypercholesterolemia Hypoalbuminemia Secundum atrial septal defect Eyelid coloboma Malnutrition Ureteral agenesis Arthrogryposis multiplex congenita Toe syndactyly Single transverse palmar crease Oligohydramnios Hypoplasia of the brainstem Cystic hygroma Broad palm Redundant neck skin Hydranencephaly Narrow nasal ridge Limb joint contracture Potter facies Atrial septal defect External ear malformation Abnormality of metabolism/homeostasis Mandibular prognathia Abnormality of the eye Feeding difficulties in infancy Coloboma Abnormal cardiac septum morphology Short philtrum Prominent nasal bridge Short palpebral fissure Preauricular skin tag Narrow palpebral fissure Abnormal palate morphology Abnormality of vision Hyponatremia Villous atrophy Shawl scrotum Tetraphocomelia Asplenia Amniotic constriction ring Vaginal atresia Long penis Phocomelia Gastroschisis Abnormality of the diaphragm Urethral atresia Amelia Absent external genitalia Tetraamelia Single naris Hypoplasia of the fallopian tube Bilateral cleft lip Adrenal gland agenesis Peripheral pulmonary vessel aplasia Cardiomyopathy Obesity Cerebral cortical atrophy Pectus carinatum Primary amenorrhea Gynecomastia Bilateral single transverse palmar creases Growth abnormality Diabetes insipidus Prominent occiput Abnormality of the ureter Single umbilical artery Anencephaly Protein-losing enteropathy Wide mouth Enterocolitis Intractable diarrhea Microcephaly Myopia Intellectual disability, severe Abnormality of the dentition Renal insufficiency Hypothyroidism Umbilical hernia Proteinuria Telecanthus Intellectual disability, moderate Stage 5 chronic kidney disease Oral cleft Everted lower lip vermilion Dental malocclusion Hypoplasia of penis Pancytopenia Thick lower lip vermilion Telangiectasia Abnormal dermatoglyphics Congenital sensorineural hearing impairment Telangiectasia of the skin Hypoplastic nipples Aplasia/Hypoplasia of the nipples Chordee Agenesis of corpus callosum Decreased number of sweat glands


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Hepatomegaly and Finger syndactyly, related diseases and genetic alterations Neuroblastoma and Hirsutism, related diseases and genetic alterations Pain and Abnormality of extrapyramidal motor function, related diseases and genetic alterations Cleft palate and Pallor, related diseases and genetic alterations