Undiagnosed 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 that can help you to solve undiagnosed cases. Browse more diseases related to these clinical features.

High match BILE ACID SYNTHESIS DEFECT, CONGENITAL, 4; CBAS4

BILE ACID SYNTHESIS DEFECT, CONGENITAL, 4; CBAS4 Is also known as cholestasis, intrahepatic, with defective conversion of trihydroxycoprostanic acid to cholic acid, trihydroxycoprostanic acid in bile

Related symptoms:

  • Autosomal recessive inheritance
  • Pica
  • Failure to thrive
  • Epicanthus
  • Hepatomegaly


SOURCES: MESH NCIT EFO OMIM DOID MONDO

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High match ALPHA-METHYLACYL-CoA RACEMASE DEFICIENCY; AMACRD

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; AMACRD Is also known as amacr deficiency;congenital bile acid synthesis defect type 4 (bas defect type 4) is an anomaly of bile acid synthesis (see this term) characterized by mild cholestatic liver disease, fat malabsorption and/or neurological disease.

Related symptoms:

  • Autosomal recessive inheritance
  • Seizures
  • Global developmental delay
  • Ataxia
  • Cataract


SOURCES: ORPHANET UMLS SCTID OMIM

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High match MEIER-GORLIN SYNDROME 6; MGORS6

Related symptoms:

  • Autosomal dominant inheritance
  • Global developmental delay
  • Hearing impairment
  • Micrognathia
  • Strabismus


SOURCES: OMIM MONDO UMLS

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High match FILIPPI SYNDROME; FLPIS

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; FLPIS Is also known as syndactyly, type i, with microcephaly and mental retardation, scott craniodigital syndrome with mental retardation;filippi syndrome is characterised by microcephaly, cutaneous syndactyly of the fingers and toes, intellectual deficit, growth retardation and a characteristic facies (high and broad nasal bridge, thin alae nasi, micrognathia and a high frontal hairline). so far, less than 25 cases have been reported. cryptorchidism, polydactyly, and teeth and hair anomalies may also be present. transmission is autosomal recessive.

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature


SOURCES: MESH ORPHANET OMIM SCTID UMLS GARD MONDO

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High match COFFIN-SIRIS SYNDROME 6; CSS6

Coffin-Siris syndrome-6 is characterized by short stature, sparse hair, mild to severe intellectual disability, coarse facial features, and variable behavioral anomalies. Some patients have fifth digit clinodactyly with small nails. Other congenital anomalies and seizures may be present. This description is based on reports of 7 unrelated patients (Shang et al., 2015; Van Paemel et al., 2017; Bramswig et al., 2017).For a general phenotypic description and a discussion of genetic heterogeneity of Coffin-Siris syndrome, see CSS1 (OMIM ).

Related symptoms:

  • Autosomal dominant inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature


SOURCES: DOID OMIM MONDO

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High match CHROMOSOME 13q14 DELETION SYNDROME

The chromosome 13q14 deletion syndrome is characterized by retinoblastoma (OMIM ), variable degrees of mental impairment, and characteristic facial features, including high forehead, prominent philtrum, and anteverted earlobes (summary by Caselli et al., 2007).

CHROMOSOME 13q14 DELETION SYNDROME Is also known as chromosome 13q deletion syndrome;monosomy 13q14 is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the long arm of chromosome 13, characterized by developmental delay, variable degrees of intellectual disability, retinoblastoma and craniofacial dysmorphism (incl. micro/dolichocephaly, high and broad forehead, prominent eyebrows, thick, anteverted ear lobes, short nose with a broad nasal bridge and bulbous tip, prominent philtrum, large mouth with thin upper lip and thick, everted lower lip). other features reported include high birth weight, macrocephaly, pinealoma, hepatomegaly, inguinal hernia and cryptorchidism.

Related symptoms:

  • Autosomal dominant inheritance
  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Pica


SOURCES: MESH ORPHANET UMLS DOID MONDO OMIM

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High match CHROMOSOME 3q29 DELETION SYNDROME

3q subtelomere deletion syndrome; 3qter deletion; Del(3)(q29); Monosomy 3q29; Monosomy 3qter

CHROMOSOME 3q29 DELETION SYNDROME Is also known as microdeletion 3q29 syndrome;3q29 microdeletion syndrome is a recurrent subtelomeric deletion syndrome with variable clinical manifestations including intellectual deficit and dysmorphic features.

Related symptoms:

  • Autosomal dominant inheritance
  • Intellectual disability
  • Global developmental delay
  • Pica
  • Microcephaly


SOURCES: ORPHANET DOID MESH OMIM SCTID MONDO GARD UMLS

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High match MICROPHTHALMIA WITH LIMB ANOMALIES; MLA

Anophthalmia-syndactyly syndrome; OAS; Ophthalmoacromelic syndrome; Waardenburg anophthalmia syndrome

MICROPHTHALMIA WITH LIMB ANOMALIES; MLA Is also known as waardenburg anophthalmia syndrome, anophthalmia-syndactyly, ophthalmoacromelic syndrome;oas;microphthalmia with limb anomalies, also known as ophthalmo-acromelic syndrome (oas), is a rare developmental disorder characterized by bilateral microphthalmia or anophthalmia, synostosis, syndactyly, oligodactyly and/or polydactyly.

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Short stature
  • Pica
  • Growth delay


SOURCES: ORPHANET OMIM

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High match CHROMOSOME 17q23.1-q23.2 DELETION SYNDROME

17q23.1-q23.2 microdeletion syndrome; Del(17)(q23.1q23.2); Monosomy 17q23.1-q23.2; Monosomy 17q23.1q23.2

CHROMOSOME 17q23.1-q23.2 DELETION SYNDROME Is also known as ;17q23.1q23.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay, microcephaly, short stature, heart defects and limb abnormalities.

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Scoliosis


SOURCES: SCTID UMLS OMIM GARD DOID ORPHANET MONDO

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High match MILLER-DIEKER LISSENCEPHALY SYNDROME; MDLS

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; MDLS Is also known as mds;miller-dieker syndrome (mds) is a contiguous gene deletion syndrome of chromosome 17p13.3, characterised by classical lissencephaly (lissencephaly type 1) and distinct facial features. additional congenital malformations can be part of the condition.

Related symptoms:

  • Autosomal dominant inheritance
  • Intellectual disability
  • Seizures
  • Microcephaly
  • Hypertelorism


SOURCES: OMIM ORPHANET

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

Symptoms // Phenotype % Cases
Failure to thrive 70%
Epicanthus 70%
Clinodactyly of the 5th finger 70%
Short nose 60%
Micrognathia 60%
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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:

60% Intrauterine growth retardation 60% Abnormal facial shape 60% Global developmental delay 60% Growth delay 60% Pica 60% Intellectual disability 50% Cleft palate 50% Cryptorchidism 50% Clinodactyly 50% Posteriorly rotated ears 50% Downslanted palpebral fissures 50% Hypertelorism 50% Autosomal dominant inheritance 50% Microcephaly 50% Short stature 40% Hearing impairment 40% Thin upper lip vermilion 40% Postnatal growth retardation 40% Thin vermilion border 40% Prominent forehead 40% Bilateral single transverse palmar creases 40% Depressed nasal bridge 40% Inguinal hernia 40% Autosomal recessive inheritance 40% Delayed speech and language development 40% Hernia 40% Small for gestational age 40% Gastroesophageal reflux 40% Low-set ears 40% Atrial septal defect 40% Deep philtrum 40% Seizures 40% Sandal gap 40% Cataract 30% Motor delay 30% Anteverted nares 30% Intellectual disability, severe 30% Polydactyly 30% Wide nasal bridge 30% Intellectual disability, moderate 30% Finger syndactyly 30% Prominent nasal bridge 30% Muscular hypotonia 30% Generalized hypotonia 30% Bulbous nose 30% Short middle phalanx of finger 30% Optic atrophy 30% High palate 30% Microphthalmia 30% Long philtrum 30% High forehead 30% Hypoplasia of the corpus callosum 30% Talipes equinovarus 30% Aggressive behavior 30% Sporadic 30% Abnormality of the genital system 30% Ataxia 30% Abnormality of cardiovascular system morphology 20% Ptosis 20% Infantile spasms 20% Abnormality of the skeletal system 20% Finger clinodactyly 20% Syndactyly 20% Brachycephaly 20% Abnormal heart morphology 20% Stereotypy 20% Brachydactyly 20% Cleft lip 20% Protruding ear 20% Joint hyperflexibility 20% Hip dislocation 20% Everted lower lip vermilion 20% Patent ductus arteriosus 20% Behavioral abnormality 20% Pulmonary arterial hypertension 20% Supernumerary nipple 20% Horseshoe kidney 20% Broad forehead 20% Small nail 20% Limitation of joint mobility 20% Paraplegia 20% Wide nose 20% Thick eyebrow 20% Abnormality of the cardiovascular system 20% Anteverted ears 20% Scoliosis 20% Toe syndactyly 20% Short philtrum 20% Delayed eruption of teeth 20% Muscular hypotonia of the trunk 20% Pectus excavatum 20% Retrognathia 20% Hyperactivity 20% Wide mouth 20% Anxiety 20% Low-set, posteriorly rotated ears 20% Attention deficit hyperactivity disorder 20% Tapered finger 20% Long eyelashes 20% Widely spaced teeth 20% Ventricular septal defect 20% Severe short stature 20% Abnormality of the liver 20% Delayed skeletal maturation 20% Depressivity 20% Sacral dimple 20% Conductive hearing impairment 20% Cholestasis 20% Spasticity 20% Midface retrusion 20% Cirrhosis 20% Feeding difficulties 20% Thick vermilion border 20% Gait ataxia 20% Underdeveloped nasal alae 20% Hip dysplasia 20% Strabismus 20% Retinopathy 20% Tics 20% Hepatomegaly 20% Visual impairment 20% Fat malabsorption 10% Lissencephaly 10% Spastic diplegia 10% Nasal speech 10% Aspiration 10% Infantile muscular hypotonia 10% Abnormality of neuronal migration 10% Anorexia 10% Narrow face 10% Aortic valve stenosis 10% Hyperreflexia 10% Joint contracture of the hand 10% Spastic gait 10% Flat face 10% Hydrocephalus 10% Six lumbar vertebrae 10% Subvalvular aortic stenosis 10% EEG abnormality 10% Camptodactyly 10% Spastic paraplegia 10% Nephropathy 10% Heterotopia 10% Broad face 10% Bipolar affective disorder 10% Decreased fetal movement 10% Pachygyria 10% Omphalocele 10% Shallow orbits 10% Dental crowding 10% Prominent nose 10% Progressive spastic paraplegia 10% Abnormality of upper lip 10% Short 5th toe 10% Milia 10% Cognitive impairment 10% Hypertension 10% Macrocephaly 10% Gait disturbance 10% Abnormality of the dentition 10% Hypospadias 10% Midline brain calcifications 10% Macrotia 10% Autism 10% Type I lissencephaly 10% Joint laxity 10% Pectus carinatum 10% Pelvic kidney 10% Recurrent otitis media 10% Long face 10% Duodenal atresia 10% Otitis media 10% Psychosis 10% Oral cleft 10% Cleft upper lip 10% Abnormality of skin pigmentation 10% Thick upper lip vermilion 10% Contiguous gene syndrome 10% Deep palmar crease 10% Cavum septum pellucidum 10% Pulmonic stenosis 10% Decerebrate rigidity 10% Recurrent aspiration pneumonia 10% Facial asymmetry 10% Blepharophimosis 10% Abnormal form of the vertebral bodies 10% Cerebral cortical atrophy 10% Short tibia 10% Bicuspid aortic valve 10% Retinoblastoma 10% Abnormality of the thumb 10% Abnormality of the upper limb 10% Short femur 10% Chronic otitis media 10% Congenital contracture 10% Esotropia 10% Long fingers 10% Shawl scrotum 10% Slender finger 10% Blepharitis 10% Mild global developmental delay 10% Abnormality of the lower limb 10% Abnormality of epiphysis morphology 10% Highly arched eyebrow 10% Patellar hypoplasia 10% Flared nostrils 10% True anophthalmia 10% Malar flattening 10% Fused fourth and fifth metacarpals 10% Camptodactyly of 2nd-5th fingers 10% Hypoplasia of the premaxilla 10% Metacarpal synostosis 10% Synostosis of joints 10% Dyspnea 10% Foot oligodactyly 10% Macrodontia 10% Venous insufficiency 10% Arrhinencephaly 10% Hand oligodactyly 10% Narrow mouth 10% Pes planus 10% Moderate global developmental delay 10% Bifid nose 10% Death in infancy 10% Bowing of the long bones 10% Agenesis of corpus callosum 10% Abnormality of the metacarpal bones 10% Hemivertebrae 10% Polyhydramnios 10% Short long bone 10% Abnormal vertebral morphology 10% Abnormality of the hair 10% Tibial bowing 10% Upslanted palpebral fissure 10% Split hand 10% Broad thumb 10% Intellectual disability, mild 10% Short palpebral fissure 10% Postaxial hand polydactyly 10% Hypoplasia of the maxilla 10% Elbow dislocation 10% Abnormality of metabolism/homeostasis 10% Large earlobe 10% Abnormal eyebrow morphology 10% Oligodactyly 10% Long toe 10% Shallow acetabular fossae 10% Retinopathy of prematurity 10% Coxa magna 10% Chalazion 10% Carpal synostosis 10% Anophthalmia 10% Neoplasm 10% Postaxial foot polydactyly 10% Fibular hypoplasia 10% Abnormal renal morphology 10% Synostosis of carpal bones 10% Dysphagia 10% Tarsal synostosis 10% Leukocoria 10% Coarse facial features 10% Thickened helices 10% Atrophy/Degeneration affecting the brainstem 10% Respiratory tract infection 10% Umbilical hernia 10% Recurrent respiratory infections 10% Biliary tract abnormality 10% Motor polyneuropathy 10% Iris hypopigmentation 10% Agitation 10% Microtia 10% Apathy 10% Sensorimotor neuropathy 10% Paraparesis 10% Spastic paraparesis 10% Nausea 10% Hypergonadotropic hypogonadism 10% Hyperlordosis 10% Delayed puberty 10% Status epilepticus 10% Tracheomalacia 10% Subglottic stenosis 10% Bronchomalacia 10% Entropion 10% Patellar aplasia 10% Hypoplastic labia majora 10% Stenosis of the external auditory canal 10% Cortical gyral simplification 10% Delayed myelination 10% Emphysema 10% Laryngomalacia 10% Microretrognathia 10% Short phalanx of finger 10% Depressed nasal ridge 10% Lumbar hyperlordosis 10% Growth hormone deficiency 10% Hemiparesis 10% Intention tremor 10% Nasogastric tube feeding 10% Steatorrhea 10% Dysarthria 10% Peripheral neuropathy 10% Giant cell hepatitis 10% Intrahepatic cholestasis 10% Neonatal onset 10% Prolonged neonatal jaundice 10% Abnormality of the coagulation cascade 10% Coma 10% Hyperbilirubinemia 10% Hepatitis 10% Hepatic failure 10% Malabsorption 10% Jaundice 10% Elevated hepatic transaminase 10% Tremor 10% Vomiting 10% Type II diabetes mellitus 10% Peripheral axonal neuropathy 10% Sensory impairment 10% Confusion 10% Pigmentary retinopathy 10% Migraine 10% Polyneuropathy 10% Sensory neuropathy 10% Unsteady gait 10% Encephalopathy 10% Distal sensory impairment 10% Irritability 10% Mental deterioration 10% Photophobia 10% Headache 10% Hypogonadism 10% Rod-cone dystrophy 10% Tracheobronchomalacia 10% Hypertonia 10% Abnormality of the gastrointestinal tract 10% Abnormality of the hand 10% Small toe 10% Testicular torsion 10% Diaphragmatic eventration 10% Periventricular leukomalacia 10% High anterior hairline 10% Arachnoid cyst 10% Plagiocephaly 10% Micropenis 10% Wormian bones 10% Sparse scalp hair 10% Thick lower lip vermilion 10% Small hand 10% High, narrow palate 10% Short foot 10% Short neck 10% Hydronephrosis 10% Kyphoscoliosis 10% Holoprosencephaly 10% Absent septum pellucidum 10% Aplasia/Hypoplasia of the thumb 10% Retinal coloboma 10% Trigonocephaly 10% Patent foramen ovale 10% Chorioretinal coloboma 10% Abnormal dermatoglyphics 10% Coloboma 10% Wide anterior fontanel 10% Open mouth 10% Hypotelorism 10% Webbed neck 10% Iris coloboma 10% Dolichocephaly 10% Nephrotic syndrome 10% Short distal phalanx of finger 10% Absent speech 10% Cerebellar atrophy 10% Microdontia 10% Decreased body weight 10% Generalized hirsutism 10% Postnatal microcephaly 10% Hypertrichosis 10% Fine hair 10% Ambiguous genitalia 10% Specific learning disability 10% Cutaneous syndactyly 10% Hypodontia 10% Hirsutism 10% Smooth philtrum 10% Synophrys 10% Sparse hair 10% Proptosis 10% Dystonia 10% Mutism 10% Dysphasia 10% Constipation 10% Congenital microcephaly 10% 2-4 toe syndactyly 10% Frontal hirsutism 10% Clinodactyly of the 5th toe 10% Enlarged epiphyses 10% Aplastic/hypoplastic toenail 10% Cutaneous syndactyly of toes 10% Broad columella 10% Aphasia 10% Low hanging columella 10% Limb hypertonia 10% Echolalia 10% Abnormality of digit 10% Narrow nose 10% Limb dystonia 10% Cutaneous finger syndactyly 10% Bitemporal hollowing



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Frontal bossing and Round face, related diseases and genetic alterations