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. Browse more diseases related to these clinical features.

High match RUDIGER SYNDROME

Related symptoms:

  • Ureterovesical stenosis
  • High axial triradius
  • Short digit
  • Ovarian cyst
  • Bicornuate uterus


SOURCES: ORPHANET OMIM

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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

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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
  • Intrahepatic cholestasis
  • Abnormality of the coagulation cascade
  • Biliary tract abnormality


SOURCES: ORPHANET OMIM

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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:

  • Frontal hirsutism
  • 2-4 toe syndactyly
  • Low hanging columella
  • Echolalia
  • Aphasia


SOURCES: OMIM ORPHANET

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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

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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

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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:

  • Absent nasal bridge
  • Tics
  • Recurrent ear infections
  • Narrow palpebral fissure
  • Tricuspid regurgitation


SOURCES: ORPHANET OMIM

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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

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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; CED3 (OMIM ) is caused by mutation in the IFT43 gene (OMIM ) on chromosome 14q24; 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
  • Broad toe
  • Thin nail


SOURCES: OMIM ORPHANET

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High match MILLER-DIEKER LISSENCEPHALY SYNDROME

Features of the Miller-Dieker syndrome include classic lissencephaly (pachygyria, incomplete or absent gyration of the cerebrum), microcephaly, wrinkled skin over the glabella and frontal suture, prominent occiput, narrow forehead, downward slanting palpebral fissures, small nose and chin, cardiac malformations, hypoplastic male extrenal genitalia, growth retardation, and mental deficiency with seizures and EEG abnormalities. Life expectancy is grossly reduced, with death most often occurring during early childhood (summary by Schinzel, 1988).Lissencephaly means 'smooth brain,' i.e., brain without convolutions or gyri.Deletion of or mutation in the LIS1 gene (PAFAH1B1 ) appears to cause the lissencephaly because point mutations have been identified in this gene in isolated lissencephaly sequence (ILS; see {607432}). Facial dysmorphism and other anomalies in Miller-Dieker patients appear to be the consequence of deletion of additional genes distal to LIS1. Toyo-oka et al. (2003) presented evidence that the gene whose deletion is responsible for the greater severity of Miller-Dieker syndrome compared to isolated lissencephaly is the gene encoding 14-3-3-epsilon (YWHAE ).

MILLER-DIEKER LISSENCEPHALY SYNDROME Is also known as mds;

Related symptoms:

  • Bitemporal hollowing
  • Midline brain calcifications
  • Abnormality of upper lip
  • Recurrent aspiration pneumonia
  • Progressive spastic paraplegia


SOURCES: OMIM ORPHANET

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

Symptoms // Phenotype % Cases
Bilateral single transverse palmar creases 70%
Failure to thrive 50%
Anteverted nares 50%
Wide nasal bridge 50%
Seizures 50%
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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:

50% Epicanthus 40% Intrauterine growth retardation 40% Autosomal recessive inheritance 40% Brachydactyly 40% Microcephaly 40% Global developmental delay 40% Intellectual disability 30% Hepatomegaly 30% High palate 30% Cryptorchidism 30% Cleft palate 30% Clinodactyly of the 5th finger 30% Finger syndactyly 30% Hypodontia 30% High forehead 30% Micrognathia 30% Abnormality of cardiovascular system morphology 30% Camptodactyly of finger 30% Narrow chest 30% Hypertelorism 20% Abnormality of the ribs 20% Hepatic failure 20% Rhizomelia 20% Low-set, posteriorly rotated ears 20% Short nose 20% Prominent nasal bridge 20% Abnormality of the metaphysis 20% Sparse hair 20% Hypotelorism 20% Strabismus 20% Dolichocephaly 20% Broad forehead 20% Brachycephaly 20% Microdontia 20% Low-set ears 20% Cerebral cortical atrophy 20% Open mouth 20% Polyhydramnios 20% Blepharophimosis 20% Telecanthus 20% Upslanted palpebral fissure 20% Prominent forehead 20% Camptodactyly 20% Clinodactyly 20% Thin upper lip vermilion 20% Depressed nasal bridge 20% Posteriorly rotated ears 20% Inguinal hernia 20% Muscular hypotonia 20% Short stature 10% Abnormality of the abdominal wall 10% Scaphocephaly 10% Slow-growing hair 10% Broad distal phalanges of all fingers 10% Malformation of the hepatic ductal plate 10% Flattened epiphysis 10% Renal magnesium wasting 10% Broad toe 10% Thin nail 10% Anodontia 10% Tubulointerstitial nephritis 10% Sagittal craniosynostosis 10% Hepatic cysts 10% Abnormal diaphysis morphology 10% Short nail 10% Ureterovesical stenosis 10% Hydrocephalus 10% Slender long bone 10% Displacement of the external urethral meatus 10% Abdominal situs inversus 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% Male pseudohermaphroditism 10% Hypoplastic left heart 10% Transposition of the great arteries 10% Abnormality of the antihelix 10% Abnormality of the clavicle 10% Aplasia/Hypoplasia of the lungs 10% Non-midline cleft lip 10% Micromelia 10% Short thorax 10% Laryngomalacia 10% Preaxial hand polydactyly 10% Accelerated skeletal maturation 10% Aplasia/Hypoplasia of the corpus callosum 10% Intestinal malrotation 10% Multicystic kidney dysplasia 10% Renal hypoplasia/aplasia 10% Depressed nasal ridge 10% Abnormal form of the vertebral bodies 10% Round face 10% Macroglossia 10% Postaxial hand polydactyly 10% Abnormality of pelvic girdle bone morphology 10% Bicuspid aortic valve 10% Protuberant abdomen 10% Abnormality of the cardiovascular system 10% Recurrent aspiration pneumonia 10% Progressive spastic paraplegia 10% Pelvic kidney 10% Cavum septum pellucidum 10% Infantile spasms 10% Contiguous gene syndrome 10% Deep palmar crease 10% Thick upper lip vermilion 10% Duodenal atresia 10% Infantile muscular hypotonia 10% Heterotopia 10% Lissencephaly 10% Polydactyly 10% Abnormal heart morphology 10% Midline brain calcifications 10% Sacral dimple 10% Pachygyria 10% Joint contracture of the hand 10% Decreased fetal movement 10% Nephropathy 10% Omphalocele 10% Delayed eruption of teeth 10% EEG abnormality 10% Hypoplasia of the corpus callosum 10% Motor delay 10% Abnormality of metabolism/homeostasis 10% Growth delay 10% Cataract 10% Ataxia 10% Abnormality of upper lip 10% Bitemporal hollowing 10% Taurodontia 10% Hypoplasia of dental enamel 10% Chronic kidney disease 10% Abnormal toenail morphology 10% Fibular hypoplasia 10% High-grade hypermetropia 10% Short humerus 10% Prominent occiput 10% Widely spaced teeth 10% Ectodermal dysplasia 10% Hypocalcemia 10% Intestinal hypoplasia 10% Hepatic fibrosis 10% Radial deviation of finger 10% Retinal dystrophy 10% Short ribs 10% Short toe 10% Nystagmus 10% Abnormality of the fingernails 10% Fine hair 10% Abnormality of dental enamel 10% Full cheeks 10% High, narrow palate 10% Short distal phalanx of finger 10% Craniosynostosis 10% Joint laxity 10% Everted lower lip vermilion 10% Joint hyperflexibility 10% Osteoporosis 10% Abnormality of the dentition 10% Pectus excavatum 10% Myopia 10% Duodenal stenosis 10% Intellectual disability, moderate 10% Abnormality of the soft palate 10% Underdeveloped nasal alae 10% Tremor 10% Frontal hirsutism 10% 2-4 toe syndactyly 10% Low hanging columella 10% Echolalia 10% Aphasia 10% Mutism 10% Hypertrichosis 10% Dysphasia 10% Decreased body weight 10% Ambiguous genitalia 10% Wide nose 10% Thin vermilion border 10% Peripheral neuropathy 10% Specific learning disability 10% Severe short stature 10% Postnatal growth retardation 10% Short philtrum 10% Dystonia 10% Proptosis 10% Cerebellar atrophy 10% Delayed skeletal maturation 10% Ventricular septal defect 10% Visual impairment 10% Optic atrophy 10% Aplasia/Hypoplasia affecting the eye 10% Elevated hepatic transaminases 10% Cirrhosis 10% Ectopic anus 10% Hyperpigmentation of the skin 10% Short digit 10% Ovarian cyst 10% Bicornuate uterus 10% Hypoplastic fingernail 10% Hoarse voice 10% Death in infancy 10% Micropenis 10% Coarse facial features 10% Flexion contracture 10% Mask-like facies 10% Brittle hair 10% Pointed chin 10% Alopecia 10% Type II diabetes mellitus 10% Intellectual disability, severe 10% Hyporeflexia 10% Giant cell hepatitis 10% Fat malabsorption 10% Intrahepatic cholestasis 10% Abnormality of the coagulation cascade 10% Biliary tract abnormality 10% Prolonged neonatal jaundice 10% Hyperbilirubinemia 10% Cholestasis 10% Iris hypopigmentation 10% Encephalopathy 10% Lower limb asymmetry 10% Abnormality of chromosome segregation 10% Generalized hypotonia 10% Abnormality of the pinna 10% Sleep apnea 10% Long nose 10% Multiple cafe-au-lait spots 10% Impaired pain sensation 10% Microretrognathia 10% Proximal placement of thumb 10% Chronic otitis media 10% Oral cleft 10% High axial triradius 10% Sleep disturbance 10% Hyperactivity 10% Bulbous nose 10% Flat face 10% Narrow palpebral fissure 10% Long face 10% Interphalangeal joint contracture of finger 10% Short palm 10% Toe syndactyly 10% Arrhythmia 10% Deeply set eye 10% Gastroesophageal reflux 10% Sporadic 10% Feeding difficulties 10% Delayed speech and language development 10% Downslanted palpebral fissures 10% Hearing impairment 10% Tricuspid regurgitation 10% Recurrent ear infections 10% Hypoplasia of penis 10% Abnormal dermatoglyphics 10% Microtia 10% Wide mouth 10% Hypospadias 10% Short neck 10% Ptosis 10% Lip pit 10% Hypoplasia of the ear cartilage 10% Dimple chin 10% Large earlobe 10% Facial cleft 10% Supernumerary nipple 10% Abnormality of the thorax 10% Preauricular skin tag 10% Tics 10% Abnormality of the palate 10% Broad thumb 10% Blue sclerae 10% Abnormality of movement 10% Tapered finger 10% Facial asymmetry 10% Iris coloboma 10% Hypertonia 10% Mandibular prognathia 10% Microphthalmia 10% Cognitive impairment 10% Scoliosis 10% Absent nasal bridge 10% Autosomal dominant inheritance

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Frontal bossing and Round face Diseases and genetic alterations