Hypertelorism, and Single transverse palmar crease

Diseases related with Hypertelorism and Single transverse palmar crease

In the following list you will find some of the most common rare diseases related to Hypertelorism and Single transverse palmar crease that can help you solving undiagnosed cases.

Top matches:

Related symptoms:

  • Hypertelorism
  • Abnormal facial shape
  • Cryptorchidism
  • Low-set ears
  • Epicanthus


SOURCES: OMIM MENDELIAN

More info about OROFACIAL CLEFT 15; OFC15

Congenital lethal myopathy, Compton-North type is a rare, genetic, lethal, non-dystrophic congenital myopathy disorder characterized, antenatally, by fetal akinesia, intrauterine growth restriction and polyhydramnios, and, following birth, by severe neonatal hypotonia, severe generalized skeletal, bulbar and respiratory muscle weakness, multiple flexion contractures, and normal creatine kinase serum levels. Ultrastructurally, loss of integrin alpha7, beta2-syntrophin and alpha-dystrobrevin from the muscle sarcolemma and disruption of sarcomeres with disorganization of the Z band are observed.

Related symptoms:

  • Generalized hypotonia
  • Growth delay
  • Hypertelorism
  • Flexion contracture
  • High palate


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about CONGENITAL LETHAL MYOPATHY, COMPTON-NORTH TYPE

Among the Yakuts, an Asian population isolate that is located in the northeastern part of Siberia, Maksimova et al. (2010) ascertained a short stature syndrome involving autosomal recessive postnatal growth failure, small hands and feet, loss of visual acuity with abnormalities of color vision, abnormal nuclear shape in neutrophil granulocytes (Pelger-Huet anomaly; see {169400}), and normal intelligence.

SHORT STATURE-OPTIC ATROPHY-PELGER-HUËT ANOMALY SYNDROME Is also known as soph syndrome

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Growth delay
  • Hypertelorism
  • Strabismus


SOURCES: OMIM ORPHANET MENDELIAN

More info about SHORT STATURE-OPTIC ATROPHY-PELGER-HUËT ANOMALY SYNDROME

Other less relevant matches:

Peroxisome biogenesis disorder-4B (PDB4B) includes the overlapping phenotypes of neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD), which represent milder manifestations of the Zellweger syndrome spectrum (ZSS) of peroxisome biogenesis disorders (PBDs). The clinical course of patients with the NALD and IRD presentation is variable and may include developmental delay, hypotonia, liver dysfunction, sensorineural hearing loss, retinal dystrophy, and visual impairment. Children with the NALD presentation may reach their teens, and those with the IRD presentation may reach adulthood (summary by Waterham and Ebberink, 2012).For a complete phenotypic description and a discussion of genetic heterogeneity of PBD(NALD/IRD), see {601539}.Individuals with mutations in the PEX6 gene have cells of complementation group 4 (CG4, equivalent to CG6 and CGC). For information on the history of PBD complementation groups, see {214100}.

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about PEROXISOME BIOGENESIS DISORDER 4B; PBD4B

The overlapping phenotypes of neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD) represent the milder manifestations of the Zellweger syndrome spectrum (ZSS) of peroxisome biogenesis disorders. The clinical course of patients with the NALD and IRD presentation is variable and may include developmental delay, hypotonia, liver dysfunction, sensorineural hearing loss, retinal dystrophy, and visual impairment. Children with the NALD presentation may reach their teens, and those with the IRD presentation may reach adulthood (summary by Waterham and Ebberink, 2012).For a complete phenotypic description and a discussion of genetic heterogeneity of PBD(NALD/IRD), see {601539}.Individuals with mutations in the PEX12 gene have cells of complementation group 3 (CG3). For information on the history of PBD complementation groups, see {214100}.

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about PEROXISOME BIOGENESIS DISORDER 3B; PBD3B

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

Autosomal recessive renal tubular dysgenesis is a severe disorder of renal tubular development characterized by persistent fetal anuria and perinatal death, probably due to pulmonary hypoplasia from early-onset oligohydramnios (the Potter phenotype) (Gribouval et al., 2005). Absence or paucity of differentiated proximal tubules is the histopathologic hallmark of the disorder and may be associated with skull ossification defects.

RENAL TUBULAR DYSGENESIS; RTD Is also known as primitive renal tubule syndrome

Related symptoms:

  • Intellectual disability
  • Microcephaly
  • Hypertelorism
  • Ventricular septal defect
  • Respiratory insufficiency


SOURCES: OMIM ORPHANET MENDELIAN

More info about RENAL TUBULAR DYSGENESIS; RTD

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

Acrofacial dysostosis Rodriguez type is a multiple malformative syndrome in which mandibulofacial dysostosis and severe limb reduction defects are associated with complex malformations of different organs and systems especially the CNS, urogenital tract, heart, and lungs. The mandibulofacial defect, characterized by extremely severe microretrognathism and cleft palate, causes death by respiratory distress. Limb reduction is severe and includes shoulder and pelvis hypoplasia, phocomelia with humerus hypoplasia, absent radius and ulna, complete absence of long bones of the legs, and various hand anomalies, predominantly preaxial reduction (absent thumbs). Other features include CNS malformations (agenesis of corpus callosum and acqueductal stenosis), lung anomalies (absent lung lobulation), complex cardiac malformations, and unicornis uterus. These infants also show facial dysmorphism and ear anomalies. The condition is a rare with an autosomal recessive mode of inheritance. The prognosis is poor and this condition leads to death in utero or shortly after birth.

ACROFACIAL DYSOSTOSIS, RODRÍGUEZ TYPE Is also known as rodriguez lethal acrofacial dysostosis syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about ACROFACIAL DYSOSTOSIS, RODRÍGUEZ TYPE

FAMILIAL ADENOMATOUS POLYPOSIS DUE TO 5Q22.2 MICRODELETION Is also known as familial adenomatous polyposis due to del(5)(q22.2)|colorectal adenomatous polyposis due to monosomy 5q22.2|familial polyposis coli due to monosomy 5q22.2|familial adenomatous polyposis due to monosomy 5q22.2|fap due to monosomy 5q22.2

Related symptoms:


SOURCES: ORPHANET MENDELIAN

More info about FAMILIAL ADENOMATOUS POLYPOSIS DUE TO 5Q22.2 MICRODELETION

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

Symptoms // Phenotype % cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
Wide nasal bridge Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases
Micrognathia Uncommon - Between 30% and 50% cases
Malar flattening Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Hearing impairment Polyhydramnios Epicanthus Intellectual disability Low-set ears

Rare Symptoms - Less than 30% cases

Ataxia Global developmental delay Cutis laxa Prominent nasal bridge Sensorineural hearing impairment Facial asymmetry Syndactyly Long philtrum Short neck Optic atrophy Muscular hypotonia Strabismus Nystagmus Hepatomegaly Visual impairment Aplasia/Hypoplasia of the radius Narrow mouth Macrocephaly Overlapping fingers Retinal dystrophy Decreased liver function Adrenal insufficiency Cleft palate Anal atresia Preauricular pit Clinodactyly Bilateral single transverse palmar creases Talipes equinovarus Posteriorly rotated ears Rod-cone dystrophy Choanal atresia Cleft lip Growth delay Protruding ear Camptodactyly Neonatal hypotonia Areflexia Myopathy High palate Flexion contracture Elevated serum creatine phosphokinase Severe short stature Upslanted palpebral fissure Hernia Mandibular prognathia Fetal akinesia sequence Kyphoscoliosis Downslanted palpebral fissures Joint stiffness Camptodactyly of finger Midface retrusion Hip dislocation Arthrogryposis multiplex congenita Abnormality of the foot Talipes Triangular face Webbed neck Narrow face Congenital hip dislocation Facial palsy Feeding difficulties Narrow palpebral fissure Decreased circulating renin level Oligohydramnios Small nail Preauricular skin tag Abnormality of the urinary system Glomerulonephritis Multiple renal cysts Renal tubular dysfunction Absent nipple Periventricular leukomalacia Interrupted aortic arch Proximal tubulopathy Right aortic arch Ptosis Accessory spleen Widely patent fontanelles and sutures Absent gallbladder Anuria Aplasia of the thymus Potter facies Infra-orbital crease Vascular ring Renal magnesium wasting Renotubular dysgenesis Scoliosis Muscle weakness Short chin Multiple joint contractures Adducted thumb Oligodactyly Thin skin Wide anterior fontanel Microretrognathia Renal hypoplasia/aplasia Abnormality of pelvic girdle bone morphology Radioulnar synostosis Triphalangeal thumb Overlapping toe Supernumerary nipple Short humerus Fibular hypoplasia Prominent nose Sprengel anomaly Short tibia Abnormality of the uterus 11 pairs of ribs Aqueductal stenosis Hand oligodactyly Phocomelia Arrhinencephaly Aplasia/Hypoplasia of the ulna Deep-set nails Abnormal form of the vertebral bodies Finger syndactyly Congenital contracture Distal arthrogryposis Rocker bottom foot Metatarsus adductus Hypotension Mildly elevated creatine phosphokinase Vertebral segmentation defect Abnormality of the ear Tarsal synostosis Abnormality of the hip bone Ulnar deviation of finger Cryptorchidism Trismus Short philtrum Calcaneovalgus deformity Ulnar deviation of the hand or of fingers of the hand Ulnar deviation of the wrist Prominent nasolabial fold Round ear Absent phalangeal crease Intrauterine growth retardation Abnormality of cardiovascular system morphology Deeply set eye Coloboma Microtia Tetralogy of Fallot Abnormality of the pinna Premature birth Palate fistula Small for gestational age Dyschromatopsia Achromatopsia Prominent glabella Blue cone monochromacy Hyposegmentation of neutrophil nuclei Nonprogressive visual loss Seizures Peripheral neuropathy Hyponasal speech Gait disturbance Fine hair Short nose Agenesis of lateral incisor Abnormality of the cerebral white matter Bilateral cleft palate Euryblepharon Decreased nerve conduction velocity Ectropion of lower eyelids Ureterocele Failure to thrive Cataract Sandal gap Narrow forehead High anterior hairline Arachnodactyly Oval face Akinesia Poor suck Respiratory insufficiency due to muscle weakness Brachydactyly Myopia Joint contracture of the hand Decreased fetal movement Blindness High, narrow palate Delayed skeletal maturation Progressive visual loss Brachycephaly Reduced visual acuity Proptosis Postnatal growth retardation Hypermetropia Dolichocephaly Micromelia Long face Thin vermilion border Thick eyebrow Small hand Dysarthria Bilateral cleft lip and palate Nephropathy Protracted diarrhea Hyponatremia Keratitis Sparse eyelashes Mild short stature Abnormality of digit Corneal erosion Optic nerve coloboma Rectovaginal fistula Villous atrophy Ureteral duplication Secretory diarrhea Abnormal facial shape Intractable diarrhea Microcephaly Ventricular septal defect Respiratory insufficiency Renal insufficiency Bulbous nose Respiratory failure Scaphocephaly Joint hyperflexibility Pulmonary hypoplasia Abnormal intestine morphology Gastrointestinal hemorrhage Hyporeflexia Very long chain fatty acid accumulation Osteoporosis Dry skin Flat face Polyneuropathy Abnormal bleeding Depressed nasal ridge Abnormal electroretinogram Steatorrhea Hypocholesterolemia Esodeviation Bilateral cleft lip Intestinal malrotation Ectropion Vomiting Diarrhea Abnormality of metabolism/homeostasis Acidosis Abnormality of the liver Toe syndactyly Sparse eyebrow Metabolic acidosis Abdominal distention Bifid uvula Absent forearm


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