Micrognathia, and Ambiguous genitalia

Diseases related with Micrognathia and Ambiguous genitalia

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

Top matches:

Autosomal dominant popliteal pterygium syndrome (AD-PPS) is a rare genetic malformative disorder characterized by cleft lip, with or without cleft palate, contractures of the lower extremities, abnormal external genitalia, syndactyly of fingers and/or toes, and a pyramidal skin fold over the hallux nail.

AUTOSOMAL DOMINANT POPLITEAL PTERYGIUM SYNDROME Is also known as facio-genito-popliteal syndrome|popliteal web syndrome

Related symptoms:

  • Scoliosis
  • Micrognathia
  • Cleft palate
  • Cryptorchidism
  • Thin upper lip vermilion


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL DOMINANT POPLITEAL PTERYGIUM 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

Omodysplasia-2 (OMOD2) is a rare autosomal dominant skeletal dysplasia characterized by shortened humeri, shortened first metacarpal, and craniofacial dysmorphism. See also OMOD1 (OMIM ).

AUTOSOMAL DOMINANT OMODYSPLASIA Is also known as omodysplasia, autosomal dominant

Related symptoms:

  • Hypertelorism
  • Micrognathia
  • Cryptorchidism
  • Depressed nasal bridge
  • Frontal bossing


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about AUTOSOMAL DOMINANT OMODYSPLASIA

Other less relevant matches:

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about SECKEL SYNDROME 9; SCKL9

Medium match WAGR SYNDROME

WAGR syndrome (Wilms tumor - aniridia - genitourinary anomalies - intellectual disability mental retardation) is a rare genetic disorder characterized by an unusual complex of congenital developmental abnormalities with intellectual disability, and an increased risk of developing Wilms tumor.

WAGR SYNDROME Is also known as del(11)(p13)|chromosome 11p13 deletion syndrome|wilms tumor-aniridia-genitourinary anomalies-intellectual disability syndrome|monosomy 11p13|deletion 11p13|wagr syndrome

Related symptoms:

  • Intellectual disability
  • Short stature
  • Microcephaly
  • Scoliosis
  • Nystagmus


SOURCES: OMIM ORPHANET MENDELIAN

More info about WAGR SYNDROME

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

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

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

Van der Woude syndrome (VWS) is a dominantly inherited developmental disorder characterized by pits and/or sinuses of the lower lip, and cleft lip and/or cleft palate (CL/P, CP). It is the most common cleft syndrome. Genetic Heterogeneity of van der Woude SyndromeAlso see VWS2 (OMIM ), caused by mutation in the GRHL3 gene (OMIM ) on chromosome 1p36.

VAN DER WOUDE SYNDROME 1; VWS1 Is also known as cleft lip and/or palate with mucous cysts of lower lip|pit|lps|lip-pit syndrome|vdws

Related symptoms:

  • Scoliosis
  • Micrognathia
  • Cleft palate
  • Cryptorchidism
  • Flexion contracture


SOURCES: OMIM MENDELIAN

More info about VAN DER WOUDE SYNDROME 1; VWS1

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

Top 5 symptoms//phenotypes associated to Micrognathia and Ambiguous genitalia

Symptoms // Phenotype % cases
Cryptorchidism Very Common - Between 80% and 100% cases
Cleft palate Uncommon - Between 30% and 50% cases
Bifid scrotum Uncommon - Between 30% and 50% cases
Micropenis Uncommon - Between 30% and 50% cases
Hypospadias Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Micrognathia and Ambiguous genitalia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Microcephaly Scoliosis Cleft lip Respiratory failure Ventriculomegaly Intellectual disability Low-set ears Microphthalmia Hypertelorism Scrotal hypoplasia Abnormality of the genital system Thin upper lip vermilion Specific learning disability

Rare Symptoms - Less than 30% cases

Microcornea Pulmonary hypoplasia Long philtrum Skeletal dysplasia Hypoplasia of penis Encephalocele Rhizomelia Patent ductus arteriosus Global developmental delay Short stature Male pseudohermaphroditism Ventricular septal defect Bowing of the long bones Respiratory distress Dandy-Walker malformation Renal dysplasia Pachygyria Multicystic kidney dysplasia Aplasia/Hypoplasia of the iris Obesity Neoplasm Cataract Aplasia/Hypoplasia of the corpus callosum Cardiomyopathy Hernia Wide intermamillary distance Hydrocephalus Polydactyly Agenesis of corpus callosum Midface retrusion Lip pit Syndactyly Choanal atresia Malar flattening Split hand Abnormality of the skeletal system Toe syndactyly Abnormality of the nail Generalized hirsutism Wide nasal bridge Non-midline cleft lip Hypoplastic labia majora Ankyloblepharon Popliteal pterygium Nonketotic hyperglycinemia Abnormality of the ribs Fibrous syngnathia Finger syndactyly Oral cleft Postaxial polydactyly Joint stiffness Cleft upper lip Hyperreflexia Cerebellar hypoplasia Macrotia Coarse facial features Narrow chest Anal atresia Renal cyst Prominent nose Malabsorption Respiratory insufficiency High palate Spasticity Muscular hypotonia Limb undergrowth Renal hypoplasia Cerebellar vermis hypoplasia Generalized hypotonia Omphalocele Seizures Scrotal hypospadias Motor delay Abnormality of temperature regulation Type I lissencephaly Prominent nasal bridge Gliosis Decreased testicular size Aganglionic megacolon Postnatal microcephaly Chronic diarrhea Severe global developmental delay Hypohidrosis Wide anterior fontanel Lissencephaly Feeding difficulties in infancy Temperature instability High forehead Hyperactivity Exocrine pancreatic insufficiency Profound global developmental delay Prominent forehead Hydranencephaly Long upper lip Duane anomaly Diarrhea Infantile spasms Relative macrocephaly Short ribs Oligohydramnios Ankyloglossia Lower lip pit Intercrural pterygium Optic atrophy Abnormality of cardiovascular system morphology Low-set, posteriorly rotated ears Talipes Full cheeks Postaxial hand polydactyly Sloping forehead Pancreatic fibrosis Aplasia/Hypoplasia of the tongue Depressed nasal ridge Cerebral palsy Urethral atresia Situs inversus totalis Anophthalmia Preaxial hand polydactyly Anencephaly Postaxial foot polydactyly Sclerocornea Asplenia Furrowed tongue Congenital hepatic fibrosis Ureteral duplication Pancreatic cysts Accessory spleen Pterygium Otitis media Spontaneous abortion Hypoplastic pelvis Lobar holoprosencephaly Microretrognathia True hermaphroditism Abnormal chorioretinal morphology Preaxial polydactyly Thoracic hypoplasia Molar tooth sign on MRI Natal tooth Occipital encephalocele Bell-shaped thorax Flat acetabular roof Thoracic dysplasia Bifid tongue Bifid uvula Cleft soft palate Horizontal ribs Lobulated tongue Squared iliac bones Hypoplastic facial bones Unicoronal synostosis Flexion contracture Feeding difficulties Difficulty walking Penoscrotal transposition Neurological speech impairment Falls Hypodontia Incomplete male pseudohermaphroditism Epicanthus Blind vagina Abnormal cardiac septum morphology Hypoplastic distal humeri Limited elbow flexion/extension Growth delay Failure to thrive Intrauterine growth retardation Talipes equinovarus Atrial septal defect Immunodeficiency Recurrent respiratory infections Polyhydramnios Protruding ear Small for gestational age Bifid nasal tip Long face Asthma Convex nasal ridge Decreased fetal movement Congenital diaphragmatic hernia Hypertrichosis Abnormal lung morphology Recurrent urinary tract infections Narrow face Clitoral hypertrophy Cortical gyral simplification Rhizomelic arm shortening Large forehead Recurrent lower respiratory tract infections Ulnar deviation of the hand Abnormal facial shape Brachydactyly Deeply set eye Abnormality of the pinna Micromelia Sandal gap Holoprosencephaly Adrenal hypoplasia Depressed nasal tip Barrel-shaped chest Shield chest Microphallus Short 1st metacarpal Ulnar deviation of the hand or of fingers of the hand Depressed nasal bridge Frontal bossing Short nose Severe short stature Short palm Hypoplasia of the maxilla Disproportionate short-limb short stature Elbow dislocation Dislocated radial head Short humerus Patellar dislocation Scaphocephaly Chronic lung disease Absent facial hair Elevated circulating follicle stimulating hormone level Primary amenorrhea Gynecomastia Bilateral single transverse palmar creases Growth abnormality Diabetes insipidus Prominent occiput Abnormality of the ureter Shawl scrotum Sparse axillary hair Sparse pubic hair Labial hypoplasia Patellar aplasia Pectus carinatum Menstrual irregularities Aplasia of the uterus Elevated circulating luteinizing hormone level Pseudohypoparathyroidism Perineal hypospadias Dimple chin Nephrogenic diabetes insipidus Abnormality of the urethra Penoscrotal hypospadias Abnormal external genitalia Female external genitalia in individual with 46,XY karyotype Renal agenesis Cerebral cortical atrophy Pulmonary artery hypoplasia Nephroblastoma Nystagmus Ptosis Visual impairment Renal insufficiency Glaucoma Hypertrophic cardiomyopathy Corneal opacity Leukemia Nephropathy Everted lower lip vermilion Abnormality of the genitourinary system Aniridia Clinodactyly of the 5th finger Acute lymphoblastic leukemia Hearing abnormality Renal neoplasm Hemihypertrophy Abnormality of the uterus Gonadoblastoma Peters anomaly Abnormal vagina morphology Streak ovary Displacement of the external urethral meatus Dysfunction of lateral corticospinal tracts Inguinal hernia Cystic liver disease


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