Macrocephaly, and Umbilical hernia

Diseases related with Macrocephaly and Umbilical hernia

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


Top matches:

High match ACHONDROGENESIS TYPE 1B


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

High match ACHONDROGENESIS TYPE 2


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

High match ACHONDROGENESIS TYPE 1A


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

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Other less relevant matches:

High match ACHONDROGENESIS, TYPE IB; ACG1B


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

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 JUVENILE POLYPOSIS SYNDROME; JPS


Juvenile polyposis syndrome is an autosomal dominant condition that predisposes gene carriers to various types of tumors. The diagnosis is based on the occurrence of hamartomatous gastrointestinal polyps that turn into malignant lesions in approximately 20% of cases (Handra-Luca et al., 2005).It had been suggested that juvenile polyposis can be caused by mutations in the PTEN gene (OMIM ), the same gene that is mutant in Cowden syndrome-1 (OMIM ). In a comprehensive review of PTEN, Waite and Eng (2002) concluded that juvenile intestinal polyposis is not a so-called PTEN hamartoma-tumor syndrome (PHTS). They suggested that the discovery of the germline PTEN mutation in an individual considered to have JPS should raise a suspicion that the clinical diagnosis is incorrect and that such an individual should be managed medically in the same manner as all patients with PHTS.

JUVENILE POLYPOSIS SYNDROME; JPS Is also known as polyposis, juvenile intestinal|pji|jip|juvenile intestinal polyposis|polyposis, familial, of entire gastrointestinal tract

Related symptoms:

  • Seizures
  • Neoplasm
  • Failure to thrive
  • Pain
  • Cryptorchidism


SOURCES: OMIM MENDELIAN

More info about JUVENILE POLYPOSIS SYNDROME; JPS

High match ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2; DRS2


Robinow syndrome is a skeletal dysplasia characterized by distinctive facial features, including midface hypoplasia, hypertelorism, a short nose, and a broad mouth, known collectively as 'fetal facies.' Additional features include mesomelic dwarfism, macrocephaly, gingival hypertrophy, dental malocclusion, genital hypoplasia, and brachydactyly (summary by Bunn et al., 2015). Additionally, increased skull bone density and appendicular osteosclerosis are present in patients with DRS2 (White et al., 2015; Bunn et al., 2015).For a discussion of genetic heterogeneity of Robinow syndrome, see RRS (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2; DRS2

High match ACHONDROGENESIS, TYPE IA; ACG1A


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, corresponding to the cases originally published by Houston et al. (1972) and Harris et al. (1972), and type IB (OMIM ), 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. Genetic Heterogeneity of AchondrogenesisAchondrogenesis type IB (ACG1B ) is caused by mutation in the DTDST gene (OMIM ), and achondrogenesis type II (ACG2 ) is caused by mutation in the COL2A1 gene (OMIM ).

ACHONDROGENESIS, TYPE IA; ACG1A Is also known as achondrogenesis, houston-harris type

Related symptoms:

  • Micrognathia
  • Cleft palate
  • Depressed nasal bridge
  • Macrocephaly
  • Frontal bossing


SOURCES: OMIM MENDELIAN

More info about ACHONDROGENESIS, TYPE IA; ACG1A

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 PELGER-HUET ANOMALY; PHA


Autosomal dominant anomaly characterized by abnormal ovoid shape GRANULOCYTE nuclei and their clumping chromatin. Mutations in the LAMIN B receptor gene that results in reduced protein levels are associated with the disorder. Heterozygote individuals are healthy with normal granulocyte function while homozygote individuals occasionally have skeletal anomalies, developmental delay, and seizures.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hypertelorism
  • Failure to thrive
  • Strabismus


SOURCES: OMIM MESH MENDELIAN

More info about PELGER-HUET ANOMALY; PHA

Top 5 symptoms//phenotypes associated to Macrocephaly and Umbilical hernia

Symptoms // Phenotype % cases
Anteverted nares Common - Between 50% and 80% cases
Short nose Common - Between 50% and 80% cases
Micrognathia Common - Between 50% and 80% cases
Frontal bossing Common - Between 50% and 80% cases
Flat face Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Macrocephaly and Umbilical hernia. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Long philtrum

Uncommon Symptoms - Between 30% and 50% cases


Polyhydramnios Short neck Cystic hygroma Abnormal enchondral ossification Hydrops fetalis Micromelia Narrow chest Aplasia/Hypoplasia of the lungs Severe short stature Abnormality of cardiovascular system morphology Thickened nuchal skin fold Hernia Depressed nasal bridge Hypertelorism Femoral hernia Lethal skeletal dysplasia Short thorax Abdominal distention Short stature Intellectual disability Short foot Edema Failure to thrive Cryptorchidism Skeletal dysplasia

Rare Symptoms - Less than 30% cases


Anemia Ventricular septal defect Limb undergrowth Premature birth Overgrowth Global developmental delay Diarrhea High forehead Upper limb undergrowth Protruding tongue Abnormal facial shape Otitis media Abnormality of the skeletal system Abnormality of the dentition Proptosis Low-set ears Gingival overgrowth Disproportionate short stature Short ribs Inguinal hernia Seizures Talipes equinovarus Abnormality of the ribs Thoracic hypoplasia Malar flattening Foot dorsiflexor weakness Thin ribs Ectopic calcification Short clavicles Protuberant abdomen Barrel-shaped chest Decreased skull ossification Hypoplastic scapulae Epiphyseal dysplasia Disproportionate short-trunk short stature Multiple epiphyseal dysplasia Hypoplastic ischia Broad clavicles Beaded ribs Unossified vertebral bodies Abnormal foot bone ossification Abnormal hand bone ossification Lower limb hypertonia Hypoplasia of the radius Giant platelets Mesomelic short stature Chronic otitis media Mesomelia Thickened calvaria Depressed nasal tip Generalized osteosclerosis Narrow naris Triangular mouth Narrow nasal tip Median cleft palate Otitis media with effusion Hyposegmentation of neutrophil nuclei Cleft palate Respiratory failure Corneal opacity Folate deficiency Short chin Growth abnormality Abnormality of the femoral metaphysis Immunodeficiency Epicanthus Thrombocytopenia Oligodontia Cellular immunodeficiency Abnormality of chromosome stability Decrease in T cell count Abnormality of neutrophils Impaired T cell function Strabismus Kyphosis Acute lymphoblastic leukemia Communicating hydrocephalus Lower limb hyperreflexia Pes cavus Prominent forehead Polydactyly Leukemia Generalized tonic-clonic seizures Neutropenia Eczema Recurrent otitis media Short 4th metacarpal Abnormality of chromosome segregation Mild short stature Sepsis Recurrent infections Hypospadias Pneumonia Recurrent respiratory infections Respiratory tract infection Malabsorption Neurodegeneration Macroglossia Decreased antibody level in blood Short 5th metacarpal Bronchiectasis Sinusitis Lymphopenia Recurrent pneumonia Malnutrition Combined immunodeficiency Bronchitis Shawl scrotum Agammaglobulinemia Chronic bronchitis Hearing impairment Increased bone mineral density Hypertension Deep philtrum Long palpebral fissure Short columella Maternal diabetes Everted upper lip vermilion Premature rupture of membranes Neoplasm Pain Fatigue Tall stature Respiratory distress Congestive heart failure Headache Abdominal pain Dyspnea Jaundice Carcinoma Stroke Narrow palpebral fissure Round face Vertigo Neonatal short-limb short stature Postaxial hand polydactyly Disproportionate short-limb short stature Short palm Recurrent fractures Multiple rib fractures Respiratory insufficiency Hypoplastic ilia Breech presentation Abnormality of bone mineral density Thick eyebrow Absent or minimally ossified vertebral bodies Generalized hypotonia Scoliosis Hydrocephalus Atrial septal defect Mandibular prognathia Coarse facial features Blepharophimosis Abnormal cardiac septum morphology Cough Chest pain Short phalanx of finger Micropenis Adenocarcinoma of the colon Hepatic vascular malformations Sensorineural hearing impairment Brachydactyly Wide nasal bridge Downslanted palpebral fissures Midface retrusion Clinodactyly Thin upper lip vermilion Multiple gastric polyps Conductive hearing impairment Cleft lip Camptodactyly Wide mouth Short distal phalanx of finger Dental malocclusion Broad thumb Dental crowding Duodenal adenocarcinoma Intussusception Gastrointestinal hemorrhage Colon cancer Cyanosis Epistaxis Telangiectasia Diplopia Hypokalemia Hypoalbuminemia Portal hypertension Clubbing Hamartoma Melena Polycythemia Hemoptysis Hematochezia Clubbing of fingers Intestinal polyposis Rectal prolapse Stomach cancer Hamartomatous polyposis Hematemesis Short 3rd metacarpal



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