Frontal bossing, and Single transverse palmar crease

Diseases related with Frontal bossing and Single transverse palmar crease

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

High match RUDIGER SYNDROME

Related symptoms:

  • Ureterovesical stenosis
  • High axial triradius
  • Short digit
  • Ovarian cyst
  • Hypoplastic fingernail


SOURCES: ORPHANET OMIM

More info about RUDIGER SYNDROME

High match ZELLWEGER-LIKE SYNDROME WITHOUT PEROXISOMAL ANOMALIES

Related symptoms:

  • Mask-like facies
  • Brittle hair
  • Pointed chin
  • Hyperpigmentation of the skin
  • Bilateral single transverse palmar creases


SOURCES: ORPHANET

More info about ZELLWEGER-LIKE SYNDROME WITHOUT PEROXISOMAL ANOMALIES

High match CONGENITAL BILE ACID SYNTHESIS DEFECT TYPE 4

CONGENITAL BILE ACID SYNTHESIS DEFECT TYPE 4 Is also known as cholestasis, intrahepatic, with defective conversion of trihydroxycoprostanic acid to cholic acid, trihydroxycoprostanic acid in bile

Related symptoms:

  • Giant cell hepatitis
  • Fat malabsorption
  • Abnormality of the coagulation cascade
  • Intrahepatic cholestasis
  • Biliary tract abnormality


SOURCES: OMIM

More info about CONGENITAL BILE ACID SYNTHESIS DEFECT TYPE 4

High match ALPHA-METHYLACYL-COA RACEMASE DEFICIENCY

AMACR deficiency is a rare autosomal recessive peroxisomal disorder characterized by adult onset of variable neurodegenerative symptoms affecting the central and peripheral nervous systems. Features may include seizures, visual failure, sensorimotor neuropathy, spasticity, migraine, and white matter hyperintensities on brain imaging. Serum pristanic acid and C27 bile acid intermediates are increased (summary by Smith et al., 2010).

ALPHA-METHYLACYL-COA RACEMASE DEFICIENCY Is also known as amacr deficiency;

Related symptoms:

  • Fat malabsorption
  • Sensorimotor neuropathy
  • Biliary tract abnormality
  • Status epilepticus
  • Iris hypopigmentation


SOURCES: ORPHANET OMIM

More info about ALPHA-METHYLACYL-COA RACEMASE DEFICIENCY

High match FILIPPI SYNDROME

Filippi syndrome is characterized by short stature, microcephaly, syndactyly, intellectual disability, and facial dysmorphism consisting of bulging forehead, broad and prominent nasal bridge, and diminished alar flare. Common features include cryptorchidism, speech impairment, and clinodactyly of the fifth finger, Some patients exhibit visual disturbances, polydactyly, seizures, and/or ectodermal abnormalities, such as nail hypoplasia, long eyelashes, hirsutism, and microdontia (summary by Hussain et al., 2014).

FILIPPI SYNDROME Is also known as syndactyly, type i, with microcephaly and mental retardation, scott craniodigital syndrome with mental retardation;

Related symptoms:

  • 2-4 toe syndactyly
  • Echolalia
  • Aphasia
  • Mutism
  • Hypertrichosis


SOURCES: ORPHANET OMIM

More info about FILIPPI SYNDROME

High match MOSAIC TRISOMY 14

Related symptoms:

  • Aplasia/Hypoplasia affecting the eye
  • Lower limb asymmetry
  • Ectopic anus
  • Abnormality of chromosome segregation
  • Bilateral single transverse palmar creases


SOURCES: ORPHANET

More info about MOSAIC TRISOMY 14

High match SEVERE MICROBRACHYCEPHALY-INTELLECTUAL DISABILITY-ATHETOID CEREBRAL PALSY SYNDROME

Related symptoms:

  • Lip pit
  • Hypoplasia of the ear cartilage
  • Dimple chin
  • Large earlobe
  • Facial cleft


SOURCES: ORPHANET

More info about SEVERE MICROBRACHYCEPHALY-INTELLECTUAL DISABILITY-ATHETOID CEREBRAL PALSY SYNDROME

High match CHROMOSOME 16P12.2-P11.2 DELETION SYNDROME

The chromosome 16p12.2-p11.2 deletion syndrome is characterized phenotypically by dysmorphic facial features, feeding difficulties, recurrent ear infections, developmental delay, and cognitive impairment. Additional features, such as heart defects and short stature, are variable (Ballif et al., 2007; Battaglia et al., 2009).The pericentric region of chromosome 16, specifically involving 16p12-p11, is a structurally complex region enriched in repetitive sequence elements, rendering this region susceptible to deletion or rearrangement (Ballif et al., 2007). There are several phenotypes associated with variation in this region: see {611913} for a deletion or duplication at 16p11.2 associated with autism; see {136570} for discussion of a recurrent 520-kb deletion at 16p12.1 associated with developmental delay and craniofacial dysmorphism; and see {613444} for a 220-kb deletion at 16p11.2 associated with isolated severe early-onset obesity and obesity with developmental delay.Battaglia et al. (2009) emphasized that the region at chromosome 16p11.2 that confers susceptibility to autism (AUTS14; see {611913}) is located more centromeric to and is distinct from the 16p12.2-p11.2 region involved in the multiple congenital anomalies and intellectual disability phenotype.

CHROMOSOME 16P12.2-P11.2 DELETION SYNDROME Is also known as ;

Related symptoms:

  • Tics
  • Absent nasal bridge
  • Tricuspid regurgitation
  • Sleep apnea
  • Long nose


SOURCES: ORPHANET OMIM

More info about CHROMOSOME 16P12.2-P11.2 DELETION SYNDROME

High match SHORT RIB-POLYDACTYLY SYNDROME

Related symptoms:

  • Abnormality of the soft palate
  • Intestinal hypoplasia
  • Duodenal stenosis
  • Displacement of the external urethral meatus
  • Abdominal situs inversus


SOURCES: ORPHANET

More info about SHORT RIB-POLYDACTYLY SYNDROME

High match CRANIOECTODERMAL DYSPLASIA 1

Cranioectodermal dysplasia (CED), also known as Sensenbrenner syndrome, is an autosomal recessive disorder characterized by sagittal craniosynostosis and facial, ectodermal, and skeletal anomalies (summary by Gilissen et al., 2010). Genetic Heterogeneity of Cranioectodermal DysplasiaCranioectodermal dysplasia-2 (CED2 ) is caused by mutation in the WDR35 gene (OMIM ) on chromosome 2p24.1; CED3 (OMIM ) is caused by mutation in the IFT43 gene (OMIM ) on chromosome 14q24.3; and CED4 (OMIM ), is caused by mutation in the WDR19 gene (OMIM ) on chromosome 4p14.

CRANIOECTODERMAL DYSPLASIA 1 Is also known as sensenbrenner syndrome, levin syndrome i;

Related symptoms:

  • Malformation of the hepatic ductal plate
  • Broad distal phalanges of all fingers
  • Renal magnesium wasting
  • Hepatic cysts
  • Broad toe


SOURCES: OMIM ORPHANET

More info about CRANIOECTODERMAL DYSPLASIA 1

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

Symptoms // Phenotype % Cases
Bilateral single transverse palmar creases 80%
Epicanthus 50%
Seizures 50%
Autosomal recessive inheritance 50%
Brachydactyly 40%
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Other less frequent symptoms

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

40% Wide nasal bridge 40% Hepatomegaly 40% Failure to thrive 40% Global developmental delay 40% Anteverted nares 30% Intrauterine growth retardation 30% High palate 30% Microcephaly 30% Hypodontia 30% Finger syndactyly 30% Intellectual disability 30% Camptodactyly of finger 30% Narrow chest 30% Hypertelorism 20% Visual impairment 20% Telecanthus 20% Tremor 20% Peripheral neuropathy 20% Cirrhosis 20% Type II diabetes mellitus 20% Abnormality of the ribs 20% Microdontia 20% Abnormality of cardiovascular system morphology 20% Abnormality of the metaphysis 20% Cryptorchidism 20% Blepharophimosis 20% Low-set, posteriorly rotated ears 20% Clinodactyly of the 5th finger 20% Dolichocephaly 20% Rhizomelia 20% Micrognathia 20% Prominent nasal bridge 20% Sparse hair 20% Broad forehead 20% Cholestasis 20% Cleft palate 20% Clinodactyly 20% Encephalopathy 20% Hepatic failure 20% Iris hypopigmentation 20% Fat malabsorption 20% Open mouth 20% Depressed nasal bridge 20% Prominent forehead 20% Hypotelorism 20% Short stature 20% Muscular hypotonia 20% Strabismus 20% High forehead 20% Biliary tract abnormality 20% Brachycephaly 10% Posteriorly rotated ears 10% Delayed speech and language development 10% Short nose 10% Sporadic 10% Abnormality of pelvic girdle bone morphology 10% Feeding difficulties 10% Deeply set eye 10% Gastroesophageal reflux 10% Intestinal malrotation 10% Low-set ears 10% Arrhythmia 10% Thin upper lip vermilion 10% Toe syndactyly 10% Short palm 10% Long face 10% Multicystic kidney dysplasia 10% Downslanted palpebral fissures 10% Preaxial hand polydactyly 10% Hearing impairment 10% Male pseudohermaphroditism 10% Displacement of the external urethral meatus 10% Renal hypoplasia/aplasia 10% Duodenal stenosis 10% Abdominal situs inversus 10% Intestinal hypoplasia 10% Abnormality of the pancreas 10% Calvarial skull defect 10% Decreased skull ossification 10% Abnormality of female internal genitalia 10% Abnormality of the genital system 10% Accelerated skeletal maturation 10% Transposition of the great arteries 10% Hypoplastic left heart 10% Abnormality of the antihelix 10% Abnormality of the clavicle 10% Aplasia/Hypoplasia of the lungs 10% Slender long bone 10% Short thorax 10% Laryngomalacia 10% Non-midline cleft lip 10% Abnormality of the soft palate 10% Ureterovesical stenosis 10% Broad distal phalanges of all fingers 10% Aplasia/Hypoplasia of the corpus callosum 10% Abnormality of the fingernails 10% Prominent occiput 10% Ectodermal dysplasia 10% Hypocalcemia 10% Bicuspid aortic valve 10% Hepatic fibrosis 10% Retinal dystrophy 10% Radial deviation of finger 10% Short ribs 10% Hypoplasia of dental enamel 10% Fine hair 10% Short toe 10% Abnormality of dental enamel 10% Short humerus 10% Full cheeks 10% High, narrow palate 10% Short distal phalanx of finger 10% Joint laxity 10% Craniosynostosis 10% Everted lower lip vermilion 10% Joint hyperflexibility 10% Osteoporosis 10% Abnormality of the dentition 10% Pectus excavatum 10% Myopia 10% Widely spaced teeth 10% Abnormality of the toenails 10% Depressed nasal ridge 10% Broad toe 10% Macroglossia 10% Abnormal form of the vertebral bodies 10% Postaxial hand polydactyly 10% Round face 10% Micromelia 10% Cerebral cortical atrophy 10% Polyhydramnios 10% Hydrocephalus 10% Malformation of the hepatic ductal plate 10% Renal magnesium wasting 10% Hepatic cysts 10% Thin nail 10% High-grade hypermetropia 10% Short nail 10% Sagittal craniosynostosis 10% Flattened epiphysis 10% Abnormality of the abdominal wall 10% Anodontia 10% Tubulointerstitial nephritis 10% Slow-growing hair 10% Abnormal diaphysis morphology 10% Protuberant abdomen 10% Taurodontia 10% Chronic kidney disease 10% Fibular hypoplasia 10% Flat face 10% Hypertonia 10% Abnormality of the pinna 10% Hypertrichosis 10% Pigmentary retinopathy 10% Hypergonadotropic hypogonadism 10% Migraine 10% Depression 10% Spasticity 10% Ataxia 10% 2-4 toe syndactyly 10% Echolalia 10% Aphasia 10% Mutism 10% Dysphasia 10% Sensorimotor neuropathy 10% Decreased body weight 10% Wide nose 10% Ambiguous genitalia 10% Underdeveloped nasal alae 10% Specific learning disability 10% Thin vermilion border 10% Severe short stature 10% Postnatal growth retardation 10% Short philtrum 10% Dystonia 10% Status epilepticus 10% Elevated hepatic transaminases 10% Cerebellar atrophy 10% Mask-like facies 10% Short digit 10% Ovarian cyst 10% Hypoplastic fingernail 10% Bicornuate uterus 10% Hoarse voice 10% Death in infancy 10% Micropenis 10% Coarse facial features 10% Flexion contracture 10% Inguinal hernia 10% Brittle hair 10% Hyperbilirubinemia 10% Pointed chin 10% Hyperpigmentation of the skin 10% Alopecia 10% Upslanted palpebral fissure 10% Intellectual disability, severe 10% Hyporeflexia 10% Giant cell hepatitis 10% Abnormality of the coagulation cascade 10% Intrahepatic cholestasis 10% Prolonged neonatal jaundice 10% Proptosis 10% Delayed skeletal maturation 10% Interphalangeal joint contracture of finger 10% Long nose 10% Iris coloboma 10% High axial triradius 10% Mandibular prognathia 10% Cognitive impairment 10% Microphthalmia 10% Scoliosis 10% Tics 10% Absent nasal bridge 10% Tricuspid regurgitation 10% Sleep apnea 10% Impaired pain sensation 10% Tapered finger 10% Multiple cafe-au-lait spots 10% Microretrognathia 10% Proximal placement of thumb 10% Chronic otitis media 10% Intellectual disability, moderate 10% Oral cleft 10% Hyperactivity 10% Camptodactyly 10% Bulbous nose 10% Sleep disturbance 10% Facial asymmetry 10% Abnormality of movement 10% Ventricular septal defect 10% Ptosis 10% Optic atrophy 10% Aplasia/Hypoplasia affecting the eye 10% Lower limb asymmetry 10% Ectopic anus 10% Abnormality of chromosome segregation 10% Hypoplasia of penis 10% Wide mouth 10% Microtia 10% Hypospadias 10% Short neck 10% Lip pit 10% Blue sclerae 10% Hypoplasia of the ear cartilage 10% Dimple chin 10% Large earlobe 10% Facial cleft 10% Supernumerary nipple 10% Abnormality of the thorax 10% Abnormal dermatoglyphics 10% Preauricular skin tag 10% Abnormality of the palate 10% Broad thumb 10% Nystagmus

Other symptoms that you may find interesting

Frontal bossing and Round face Diseases and genetic alterations