Micrognathia, and Single transverse palmar crease

Diseases related with Micrognathia and Single transverse palmar crease

In the following list you will find some of the most common rare diseases related to Micrognathia and Single transverse palmar crease 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

Related symptoms:

  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Growth delay
  • Micrognathia


SOURCES: MESH OMIM MENDELIAN

More info about CEREBROOCULOFACIOSKELETAL SYNDROME 2; COFS2

Ruijs et al. (2003) reported a Moroccan boy with a chromosomal breakage who died of hepatocellular carcinoma at age 17 years. The boy was noted to have growth retardation at age 3 years; at age 7 he was found to have thoracic kyphosis, frontal bossing, and a delayed bone age of approximately 3 years. He underwent surgery for severe bilateral posterior subcapsular cataracts at age 14. Examination at age 15 showed short stature and low weight, with premature graying of scalp hair, small frontotemporal diameter, small deep-set eyes, bulbous nose with high nasal bridge, small upper lip, and micrognathia. In addition, he had thoracic kyphoscoliosis, sloping shoulders, mild pectus excavatum, moderate bilateral contractures of both elbows, bilateral clinodactyly, and pes planus. At age 17, he developed abdominal pain, and ultrasonography revealed a liver mass; biopsy confirmed hepatocellular carcinoma. Because of the advanced stage, no treatment was possible, and he died 2 months later. Although his parents were not known to be consanguineous, they originated from the same small Moroccan village.Lessel et al. (2014) studied 2 brothers from a nonconsanguineous Australian family of European ancestry who exhibited low body weight, micrognathia, triangular face, muscular atrophy, lipodystrophy, bilateral simian creases, delayed bone age, and mild joint restrictions in the fingers and elbows. In addition, both brothers developed early-onset hepatocellular carcinoma, at ages 16 and 14 years, respectively. The older brother died at age 18 from complications of acute fulminant hepatic failure. Analysis of patient tumor biopsies showed strong focal accumulations of cancer biomarkers as well as a high proliferative index compared to healthy liver or to cells from idiopathic hepatocellular carcinoma.

PROGEROID FEATURES-HEPATOCELLULAR CARCINOMA PREDISPOSITION SYNDROME Is also known as ruijs-aalfs syndrome

Related symptoms:

  • Short stature
  • Growth delay
  • Neoplasm
  • Micrognathia
  • Pain


SOURCES: ORPHANET OMIM MENDELIAN

More info about PROGEROID FEATURES-HEPATOCELLULAR CARCINOMA PREDISPOSITION SYNDROME

Other less relevant matches:

Growth delay due to insulin-like growth factor I deficiency is characterised by the association of intrauterine and postnatal growth retardation with sensorineural deafness and intellectual deficit.

GROWTH DELAY DUE TO INSULIN-LIKE GROWTH FACTOR TYPE 1 DEFICIENCY Is also known as igf1 deficiency|primary insulin-like growth factor deficiency|growth retardation with sensorineural deafness and mental retardation|growth delay-deafness- intellectual disability syndrome|igf-1 deficiency

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about GROWTH DELAY DUE TO INSULIN-LIKE GROWTH FACTOR TYPE 1 DEFICIENCY

DIARRHEA 3, SECRETORY SODIUM, CONGENITAL, WITH OR WITHOUT OTHER CONGENITAL ANOMALIES; DIAR3 Is also known as diarrhea 3, secretory sodium, congenital, syndromic|csd|sodium diarrhea, congenital

Related symptoms:

  • Short stature
  • Hypertelorism
  • Micrognathia
  • Cleft palate
  • Low-set ears


SOURCES: OMIM MENDELIAN

More info about DIARRHEA 3, SECRETORY SODIUM, CONGENITAL, WITH OR WITHOUT OTHER CONGENITAL ANOMALIES; DIAR3

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

Zlotogora-Ogur syndrome is an ectodermal dysplasia syndrome characterized by hair, skin and teeth anomalies, facial dysmophism with cleft lip and palate, cutaneous syndactyly and, in some cases, intellectual disability.

ZLOTOGORA-OGUR SYNDROME Is also known as cleft lip/palate-ectodermal dysplasia syndrome|clped1|ed4|syndactyly-ectodermal dysplasia-cleft/lip palate|cleft lip/palate-syndactyly-pili torti syndrome|ectodermal dysplasia, margarita island type|ectodermal dysplasia, cleft lip and palate, mental retar

Related symptoms:

  • Intellectual disability
  • Seizures
  • Micrognathia
  • Cleft palate
  • Wide nasal bridge


SOURCES: ORPHANET OMIM MENDELIAN

More info about ZLOTOGORA-OGUR SYNDROME

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Micrognathia
  • Cleft palate


SOURCES: OMIM MENDELIAN

More info about ROSSELLI-GULIENETTI SYNDROME

Medium match GORDON SYNDROME

Gordon syndrome, also known as distal arthrogryposis type 3, is an extremely rare multiple congenital malformation syndrome characterized by congenital contractures of hand and feet with variable degrees of severity of camptodactyly, clubfoot and, less frequently, cleft palate. Intelligence is normal but in some cases, additional abnormalities, such as short stature, kyphoscoliosis, ptosis, micrognathia, and cryptorchidism may also be present. Gordon syndrome, Marden-Walker syndrome and arthrogryposis with oculomotor limitation and electroretinal anomalies clinically and genetically overlap, and could represent variable expressions of the same condition.

GORDON SYNDROME Is also known as distal arthrogryposis type iia|arthrogryposis multiplex congenita, distal, type iia|camptodactyly, cleft palate, and clubfoot|gordon syndrome|distal arthrogryposis type 3|camptodactyly-cleft palate-clubfoot syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Scoliosis


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about GORDON SYNDROME

Sheldon-Hall syndrome (SHS) is a rare multiple congenital contracture syndrome characterized by contractures of the distal joints of the limbs, triangular face, downslanting palpebral fissures, small mouth, and high arched palate.

SHELDON-HALL SYNDROME Is also known as arthrogryposis multiplex congenita, distal, type ii, with craniofacial abnormalities|sheldon-hall syndrome|shs|distal arthrogryposis type 2b|fssv|arthrogryposis multiplex congenita, distal, type 2b|freeman-sheldon syndrome variant

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Micrognathia


SOURCES: OMIM ORPHANET MENDELIAN

More info about SHELDON-HALL SYNDROME

Top 5 symptoms//phenotypes associated to Micrognathia and Single transverse palmar crease

Symptoms // Phenotype % cases
Flexion contracture Uncommon - Between 30% and 50% cases
Syndactyly Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases
Bilateral single transverse palmar creases Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Micrognathia and Single transverse palmar crease. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Cleft palate Triangular face Protruding ear Kyphoscoliosis Hearing impairment Global developmental delay Wide nasal bridge Clinodactyly of the 5th finger Toe syndactyly Finger syndactyly Hypogonadism Hyperlordosis Abnormality of the ear Cleft lip Epicanthus Arthrogryposis multiplex congenita Ptosis Scrotal hypoplasia Talipes equinovarus Camptodactyly of finger Sparse hair Talipes Growth delay Deeply set eye Cutaneous finger syndactyly Downslanted palpebral fissures Wide intermamillary distance Clinodactyly Malar flattening Abnormality of the ureter

Rare Symptoms - Less than 30% cases

Congenital hip dislocation Scoliosis Highly arched eyebrow Oral cleft Facial asymmetry Ectodermal dysplasia Abnormality of dental enamel Down-sloping shoulders Cleft upper lip Synophrys Carious teeth Hypodontia Short neck High palate Abnormality of the foot Nail dysplasia Camptodactyly Sparse and thin eyebrow Microdontia Webbed neck Intellectual disability, mild Bifid uvula Progressive hypotrichosis Abnormality of metabolism/homeostasis Severe short stature Palmoplantar hyperkeratosis Hypohidrosis Distal arthrogryposis Delayed skeletal maturation Neurological speech impairment Sparse lateral eyebrow Renal dysplasia Hypertelorism Abnormality of dental morphology Renal agenesis Seizures Bilateral cleft lip and palate Anodontia Dystrophic toenail Microcephaly Cataract Intrauterine growth retardation Midface retrusion Micropenis Recurrent respiratory infections Abnormality of the philtrum Pterygium Decreased body weight Cutaneous syndactyly of toes Ulnar deviation of the hand or of fingers of the hand Pili torti Prominent nasal bridge Pectus excavatum Interphalangeal joint contracture of finger Cryptorchidism EEG abnormality Macrotia Neoplasm Dystrophic fingernails Rocker bottom foot Sparse eyelashes Brittle hair Abnormal external genitalia Abnormal dermatoglyphics Penoscrotal hypospadias Absent facial hair Blind vagina Penoscrotal transposition Incomplete male pseudohermaphroditism Scrotal hypospadias Abnormality of the dentition Abnormality of the urethra Sparse scalp hair Alopecia Hyperhidrosis Nephrogenic diabetes insipidus Dimple chin Female external genitalia in individual with 46,XY karyotype Nail dystrophy Abnormality of the kidney Limitation of joint mobility Aplasia/Hypoplasia of the eyebrow Multiple joint contractures Narrow mouth Mandibular prognathia Facial palsy Joint stiffness Hip dislocation Narrow face Short chin Narrow palpebral fissure Adducted thumb Congenital contracture Metatarsus adductus Mildly elevated creatine phosphokinase Elevated serum creatine phosphokinase Vertebral segmentation defect Tarsal synostosis Abnormality of the hip bone Ulnar deviation of finger Aplasia/Hypoplasia of the radius Trismus Overlapping fingers Calcaneovalgus deformity Ulnar deviation of the wrist Prominent nasolabial fold Round ear Posteriorly rotated ears Long philtrum Bilateral cleft lip Short phalanx of finger Hypoplasia of the zygomatic bone Hypotrichosis Scaling skin Anhidrosis Anteverted ears Retinopathy Ophthalmoplegia Abnormality of skin pigmentation Pseudohypoparathyroidism Dandy-Walker malformation Lumbar hyperlordosis Abnormal vertebral morphology Myopathy Knee flexion contracture Overlapping toe Bilateral talipes equinovarus Decreased muscle mass Submucous cleft hard palate Thoracolumbar scoliosis Abnormality of the rib cage Decreased hip abduction Camptodactyly of toe Muscle weakness Feeding difficulties Perineal hypospadias Hypospadias Elevated circulating luteinizing hormone level Motor delay Elbow flexion contracture Lipodystrophy Premature graying of hair Subcapsular cataract Hepatocellular carcinoma Posterior subcapsular cataract Thoracic kyphosis Thoracic kyphoscoliosis Fulminant hepatic failure Failure to thrive Sensorineural hearing impairment Abnormal facial shape Myopia Hepatic failure Behavioral abnormality Prominent forehead Osteoporosis Hyperactivity Osteopenia Hypoglycemia Postnatal growth retardation Attention deficit hyperactivity disorder Small for gestational age Delayed eruption of teeth Bilateral sensorineural hearing impairment Low posterior hairline Insulin resistance Bulbous nose Carcinoma Low anterior hairline Hydranencephaly Cerebellar hypoplasia Polydactyly Pulmonary hypoplasia Renal cyst Oligohydramnios Renal hypoplasia Finger clinodactyly Microretrognathia Hypoplasia of the brainstem 2-3 toe syndactyly Cystic hygroma Broad palm Redundant neck skin Narrow nasal ridge Pes planus Limb joint contracture Potter facies Ureteral agenesis Microphthalmia Congenital cataract Convex nasal ridge Cutaneous photosensitivity Large beaked nose Pain Skeletal muscle atrophy Frontal bossing Kyphosis Abdominal pain Cafe-au-lait spot Radial deviation of finger Aplasia of the uterus Primary amenorrhea Rectovaginal fistula Villous atrophy Ureteral duplication Protracted diarrhea Secretory diarrhea Intractable diarrhea Cardiomyopathy Hernia Obesity Inguinal hernia Cerebral cortical atrophy Pectus carinatum Ambiguous genitalia Abnormality of the genital system Corneal erosion Gynecomastia Growth abnormality Bifid scrotum Diabetes insipidus Prominent occiput Shawl scrotum Male pseudohermaphroditism Sparse axillary hair Sparse pubic hair Labial hypoplasia Elevated circulating follicle stimulating hormone level Patellar aplasia Menstrual irregularities Optic nerve coloboma Abnormality of digit Congenital sensorineural hearing impairment Diarrhea Truncal obesity Severe intrauterine growth retardation Abnormality of the mouth Severe postnatal growth retardation Short attention span Concave nasal ridge Neonatal hyperbilirubinemia Prelingual sensorineural hearing impairment Small placenta Congenital bilateral ptosis Low-set ears Macrocephaly Vomiting Acidosis Mild short stature Polyhydramnios Abnormality of the liver Anal atresia Metabolic acidosis Abdominal distention Intestinal malrotation Gastrointestinal hemorrhage Choanal atresia Abnormal intestine morphology Cutis laxa Hyponatremia Keratitis Preauricular pit Absent phalangeal crease


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