Frontal bossing, and Polyhydramnios

Diseases related with Frontal bossing and Polyhydramnios

In the following list you will find some of the most common rare diseases related to Frontal bossing and Polyhydramnios that can help you solving undiagnosed cases.

Top matches:

Achondrogenesis type 2 (ACG2), a form of achondrogenesis (see this term), is a very rare and lethal skeletal dysplasia and part of the spectrum of type 2 collagen-related bone disorders (see this term), characterizedby severe micromelia, short neck with large head, small thorax, protuberant abdomen, underdeveloped lungs, distinctive facial features such as a prominent forehead, a small chin, a cleft palate (in some) and distinctive histological features of the cartilage.

ACHONDROGENESIS TYPE 2 Is also known as achondrogenesis, langer-saldino type

Related symptoms:

  • Micrognathia
  • Macrocephaly
  • Frontal bossing
  • Anteverted nares
  • Short neck


SOURCES: ORPHANET MENDELIAN

More info about ACHONDROGENESIS TYPE 2

Achondrogenesis type 1B (ACG1B), a form of achondrogenesis (see this term), is a rare lethal skeletal dysplasia characterized by severe micromelia with very short fingers and toes, a flat face, a short neck, thickened soft tissue around the neck, hypoplasia of the thorax, protuberant abdomen, a hydropic fetal appearance and distinctive histological features of the cartilage.

ACHONDROGENESIS TYPE 1B Is also known as achondrogenesis, parenti-fraccaro type

Related symptoms:

  • Micrognathia
  • Macrocephaly
  • Frontal bossing
  • Talipes equinovarus
  • Anteverted nares


SOURCES: ORPHANET MENDELIAN

More info about ACHONDROGENESIS TYPE 1B

Multiple epiphyseal dysplasia, Al-Gazali type is a skeletal dysplasia characterized by multiple epiphyseal dysplasia (see this term), macrocephaly and facial dysmorphism.

MULTIPLE EPIPHYSEAL DYSPLASIA, AL-GAZALI TYPE Is also known as multiple epiphyseal dysplasia-macrocephaly-distinctive facies syndrome|macrocephaly with multiple epiphyseal dysplasia and distinctive facies|mmedf

Related symptoms:

  • Hypertelorism
  • Abnormal facial shape
  • Low-set ears
  • Motor delay
  • Macrocephaly


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about MULTIPLE EPIPHYSEAL DYSPLASIA, AL-GAZALI TYPE

Other less relevant matches:

Achondrogenesis type 1A (ACG1A), a form of achondrogenesis (see this term), is a very rare, lethal skeletal dysplasia characterized by dwarfism with extremely short limbs, narrow chest, short ribs that are easily fractured, soft skull bones and distinctive histological features of the cartilage.

ACHONDROGENESIS TYPE 1A Is also known as achondrogenesis, houston-harris type

Related symptoms:

  • Micrognathia
  • Macrocephaly
  • Frontal bossing
  • Anteverted nares
  • Short neck


SOURCES: ORPHANET MENDELIAN

More info about ACHONDROGENESIS TYPE 1A

The term achondrogenesis has been used to characterize the most severe forms of chondrodysplasia in humans, invariably lethal before or shortly after birth. Achondrogenesis type I is a severe chondrodystrophy characterized radiographically by deficient ossification in the lumbar vertebrae and absent ossification in the sacral, pubic and ischial bones and clinically by stillbirth or early death (Maroteaux and Lamy, 1968; Langer et al., 1969). In addition to severe micromelia, there is a disproportionately large cranium due to marked edema of soft tissues. Classification of AchondrogenesisAchondrogenesis was traditionally divided into 2 types: type I (Parenti-Fraccaro) and type II (Langer-Saldino). Borochowitz et al. (1988) suggested that achondrogenesis type I of Parenti-Fraccaro should be classified into 2 distinct disorders: type IA (ACG1A ), corresponding to the cases originally published by Houston et al. (1972) and Harris et al. (1972), and type IB, corresponding to the case originally published by Fraccaro (1952). Analysis of the case reported by Parenti (1936) by Borochowitz et al. (1988) suggested the diagnosis of achondrogenesis type II, i.e., the Langer-Saldino type (OMIM ). Type IA would be classified as lethal achondrogenesis, Houston-Harris type; type IB, lethal achondrogenesis, Fraccaro type; and type II, lethal achondrogenesis-hypochondrogenesis, Langer-Saldino type. Superti-Furga (1996) suggested that hypochondrogenesis should be considered separately from achondrogenesis type II because the phenotype can be much milder.

ACHONDROGENESIS, TYPE IB; ACG1B Is also known as achondrogenesis, fraccaro type

Related symptoms:

  • Micrognathia
  • Macrocephaly
  • Frontal bossing
  • Anteverted nares
  • Respiratory insufficiency


SOURCES: OMIM ORPHANET MENDELIAN

More info about ACHONDROGENESIS, TYPE IB; ACG1B

Noonan syndrome is an autosomal dominant dysmorphic syndrome characterized primarily by dysmorphic facial features, cardiac abnormalities, and short stature, among other features (summary by Shah et al., 1999).For a phenotypic description and a discussion of genetic heterogeneity of Noonan syndrome, see NS1 (OMIM ), which is caused by mutations in the PTPN11 gene (OMIM ). Approximately 50% of cases of Noonan syndrome are caused by mutations in PTPN11.

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hypertelorism
  • Strabismus
  • Abnormal facial shape


SOURCES: OMIM MESH MENDELIAN

More info about NOONAN SYNDROME 3; NS3

Thanatophoric dysplasia type 1 (TD1) is a form of TD (see this term) characterized by short, bowed femurs, micromelia, narrow thorax, and brachydactyly.

THANATOPHORIC DYSPLASIA TYPE 1 Is also known as thanatophoric dwarfism type 1|td1

Related symptoms:

  • Seizures
  • Hearing impairment
  • Muscular hypotonia
  • Depressed nasal bridge
  • Brachydactyly


SOURCES: ORPHANET MENDELIAN

More info about THANATOPHORIC DYSPLASIA TYPE 1

Congenital hydrocephalus-2 is a congenital disorder with onset in utero. Affected individuals have hydrocephalus with variably dilated ventricles and variable neurologic sequelae. Some individuals have other brain abnormalities, including lissencephaly, thinning of the corpus callosum, and neuronal heterotopia. Most patients have delayed motor development and some have delayed intellectual development and/or seizures. Additional congenital features, including cardiac septal defects, iris coloboma, and nonspecific dysmorphic features, may be observed. Some patients die in utero, in infancy, or in early childhood, whereas others have long-term survival (summary by Shaheen et al., 2017).For a discussion of genetic heterogeneity of congenital hydrocephalus, see {233600}.

HYDROCEPHALUS, CONGENITAL, 2, WITH OR WITHOUT BRAIN OR EYE ANOMALIES; HYC2 Is also known as hydrocephalus, nonsyndromic, autosomal recessive 2, formerly

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM MENDELIAN

More info about HYDROCEPHALUS, CONGENITAL, 2, WITH OR WITHOUT BRAIN OR EYE ANOMALIES; HYC2

Thanatophoric dysplasia, type 2 (TD2) is a form of TD (see this term) characterized by micromelia, straight long-bones, macrocephaly, brachydactyly, shortened ribs and a clover-leaf skull (kleeblattschaedel).

THANATOPHORIC DYSPLASIA TYPE 2 Is also known as thanatophoric dwarfism type 2|cloverleaf skull-micromelic bone dysplasia syndrome|thanatophoric dysplasia with kleeblattschaedel|thanatophoric dysplasia with straight femurs and cloverleaf skull|td2|cloverleaf skull with thanatophoric dwarfism|thanatophor

Related symptoms:

  • Seizures
  • Short stature
  • Hearing impairment
  • Muscular hypotonia
  • Cognitive impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about THANATOPHORIC DYSPLASIA TYPE 2

Bartter syndrome refers to a group of disorders that are unified by autosomal recessive transmission of impaired salt reabsorption in the thick ascending loop of Henle with pronounced salt wasting, hypokalemic metabolic alkalosis, and hypercalciuria. Clinical disease results from defective renal reabsorption of sodium chloride in the thick ascending limb (TAL) of the Henle loop, where 30% of filtered salt is normally reabsorbed (Simon et al., 1997).Patients with antenatal forms of Bartter syndrome typically present with premature birth associated with polyhydramnios and low birth weight and may develop life-threatening dehydration in the neonatal period. Patients with classic Bartter syndrome (see BARTS3, {607364}) present later in life and may be sporadically asymptomatic or mildly symptomatic (summary by Simon et al., 1996 and Fremont and Chan, 2012).For a discussion of genetic heterogeneity of Bartter syndrome, see {607364}.

BARTTER SYNDROME, TYPE 2, ANTENATAL; BARTS2 Is also known as hypokalemic alkalosis with hypercalciuria 2, antenatal|hyperprostaglandin e syndrome 2

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about BARTTER SYNDROME, TYPE 2, ANTENATAL; BARTS2

Top 5 symptoms//phenotypes associated to Frontal bossing and Polyhydramnios

Symptoms // Phenotype % cases
Macrocephaly Very Common - Between 80% and 100% cases
Flat face Common - Between 50% and 80% cases
Aplasia/Hypoplasia of the lungs Common - Between 50% and 80% cases
Narrow chest Common - Between 50% and 80% cases
Micromelia Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Frontal bossing and Polyhydramnios. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Anteverted nares Short neck Short nose Cystic hygroma Abnormal enchondral ossification Micrognathia Severe short stature Seizures Atrial septal defect Thickened nuchal skin fold Short thorax Hydrops fetalis Abnormality of cardiovascular system morphology Long philtrum Umbilical hernia Respiratory insufficiency Abnormal facial shape Hydrocephalus Hearing impairment Patent ductus arteriosus Ventriculomegaly Skeletal dysplasia Short stature Global developmental delay Abdominal distention Hypoplastic ilia Femoral hernia Lethal skeletal dysplasia

Rare Symptoms - Less than 30% cases

Muscular hypotonia Cognitive impairment Downslanted palpebral fissures Posteriorly rotated ears Short ribs Strabismus Short sacroiliac notch Depressed nasal bridge Brachydactyly Kyphosis Lethal short-limbed short stature Abnormality of the kidney Platyspondyly Abnormality of the metaphysis Wide anterior fontanel Acanthosis nigricans Redundant skin Short femur Cloverleaf skull Increased nuchal translucency Intellectual disability Proptosis Heterotopia Inguinal hernia Malar flattening Short foot Hypertelorism Disproportionate short-limb short stature Motor delay Low-set ears Pectus excavatum Arrhythmia Constipation Diarrhea Prominent forehead Acidosis Vomiting Fever Pain Failure to thrive Wide-cupped costochondral junctions Small abnormally formed scapulae Small foramen magnum Edema Severe short-limb dwarfism Small face Periventricular gray matter heterotopia Relative macrocephaly Cortical gyral simplification Communicating hydrocephalus Abnormal cortical gyration Colpocephaly Macular hypoplasia Severe hydrocephalus Joint hyperflexibility Occipital encephalocele Limitation of joint mobility Decreased fetal movement Encephalocele Holoprosencephaly Metaphyseal irregularity Abnormality of neuronal migration Flared metaphysis Macrotia Osteopenia Microretrognathia Hyposthenuria Metabolic alkalosis Impaired platelet aggregation Increased circulating renin level Hypocalciuria Pseudohypoaldosteronism Hypokalemic metabolic alkalosis Hypokalemic alkalosis Hypochloremia Chondrocalcinosis Renal potassium wasting Increased urinary potassium Fetal polyuria Hyperactive renin-angiotensin system Hyperchloriduria Hyperprostaglandinuria Increased serum prostaglandin E2 Renal juxtaglomerular cell hypertrophy/hyperplasia Tetany Alkalosis Small for gestational age Ventricular arrhythmia Paresthesia Muscle cramps Generalized muscle weakness Triangular face Premature birth Dehydration Nephrocalcinosis Hypokalemia Abnormally large globe Hypercalciuria Polydipsia Polyuria Hyperkalemia Hyperthyroidism Hyperaldosteronism Hypomagnesemia Renal salt wasting Lissencephaly Intestinal malrotation Cholestasis Pterygium Leukemia Dolichocephaly Pulmonic stenosis Webbed neck Mitral valve prolapse Deep philtrum Scaphocephaly Hypertrophic cardiomyopathy Sagittal craniosynostosis Myeloproliferative disorder Hypoplastic nasal bridge Juvenile myelomonocytic leukemia Atrial septal dilatation Dysplastic pulmonary valve Osteoarthritis Craniosynostosis Abnormality of epiphysis morphology Genu valgum Enlarged joints Recurrent fractures Breech presentation Neonatal short-limb short stature Abnormality of bone mineral density Absent or minimally ossified vertebral bodies Short palm Multiple epiphyseal dysplasia Lymphedema Ptosis Molar tooth sign on MRI High palate Epicanthus Epiphyseal dysplasia Ventricular septal defect Joint dislocation Brain atrophy Hip dislocation Congenital diaphragmatic hernia Facial asymmetry Hypoplasia of the corpus callosum Hernia Cerebellar hypoplasia Cleft lip Coloboma Abnormal cardiac septum morphology Joint hypermobility Sensorineural hearing impairment Hepatic failure Bulbous nose Pulmonary hypoplasia Iris coloboma Multiple rib fractures Dandy-Walker malformation Microdontia Optic atrophy Generalized hypotonia Finger syndactyly Split hand Pectus carinatum Agenesis of corpus callosum Clinodactyly Joint stiffness Obesity Intellectual disability, profound Bowing of the long bones Postaxial hand polydactyly Disproportionate short stature Femoral bowing Abnormality of the ribs Excessive wrinkled skin Talipes equinovarus Thoracic hypoplasia Abnormality of the sacroiliac joint Low-to-normal blood pressure


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Frontal bossing and Short metacarpal, related diseases and genetic alterations