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 solving undiagnosed cases.


Top matches:

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: NCIT DOID MONDO MESH EFO OMIM

More info about BILE ACID SYNTHESIS DEFECT, CONGENITAL, 4; CBAS4

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;2-methylacyl-coa racemase deficiency; amacr deficiency; alpha-methyl-acyl-coa racemase deficiency; basd4; liver disease-retinitis pigmentosa-polyneuropathy-epilepsy syndrome

Related symptoms:

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


SOURCES: ORPHANET SCTID UMLS OMIM

More info about ALPHA-METHYLACYL-CoA RACEMASE DEFICIENCY; AMACRD

High match MEIER-GORLIN SYNDROME 6; MGORS6

Related symptoms:

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


SOURCES: UMLS MONDO OMIM

More info about MEIER-GORLIN SYNDROME 6; MGORS6

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Other less relevant matches:

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;type 1 syndactyly-microcephaly-intellectual disability syndrome

Related symptoms:

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


SOURCES: ORPHANET GARD MESH UMLS SCTID OMIM MONDO

More info about FILIPPI SYNDROME; FLPIS

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: OMIM DOID MONDO UMLS

More info about COFFIN-SIRIS SYNDROME 6; CSS6

High match CHROMOSOME 13q14 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.

CHROMOSOME 13q14 DELETION SYNDROME Is also known as chromosome 13q deletion syndrome;del(13)(q14); deletion 13q14

Related symptoms:

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


SOURCES: MONDO UMLS MESH NCIT ORPHANET OMIM DOID

More info about CHROMOSOME 13q14 DELETION SYNDROME

High match CHROMOSOME 3q29 DELETION SYNDROME

3q29 microdeletion syndrome is a recurrent subtelomeric deletion syndrome with variable clinical manifestations including intellectual deficit and dysmorphic features.

CHROMOSOME 3q29 DELETION SYNDROME Is also known as microdeletion 3q29 syndrome;3q subtelomere deletion syndrome; 3qter deletion; del(3)(q29); monosomy 3q29; monosomy 3qter

Related symptoms:

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


SOURCES: OMIM MONDO ORPHANET UMLS SCTID MESH GARD DOID

More info about CHROMOSOME 3q29 DELETION SYNDROME

High match MICROPHTHALMIA WITH LIMB ANOMALIES; MLA

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.

MICROPHTHALMIA WITH LIMB ANOMALIES; MLA Is also known as waardenburg anophthalmia syndrome, anophthalmia-syndactyly, ophthalmoacromelic syndrome;oas;anophthalmia-syndactyly syndrome; oas; ophthalmoacromelic syndrome; waardenburg anophthalmia syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET

More info about MICROPHTHALMIA WITH LIMB ANOMALIES; MLA

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

17q23.1q23.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay, microcephaly, short stature, heart defects and limb abnormalities.

CHROMOSOME 17q23.1-q23.2 DELETION SYNDROME Is also known as ;17q23.1-q23.2 microdeletion syndrome; del(17)(q23.1q23.2); monosomy 17q23.1-q23.2; monosomy 17q23.1q23.2

Related symptoms:

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


SOURCES: SCTID OMIM UMLS DOID GARD ORPHANET MONDO

More info about CHROMOSOME 17q23.1-q23.2 DELETION SYNDROME

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;lissencephaly due to 17p13.3 deletion; monosomy 17p13.3; telomeric deletion 17p

Related symptoms:

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


SOURCES: OMIM ORPHANET

More info about MILLER-DIEKER LISSENCEPHALY SYNDROME; MDLS

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

Symptoms // Phenotype % cases
Clinodactyly of the 5th finger Common - Between 50% and 80% cases
Failure to thrive Common - Between 50% and 80% cases
Epicanthus Common - Between 50% and 80% cases
Abnormal facial shape Common - Between 50% and 80% cases
Growth delay Common - Between 50% and 80% cases
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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:

Common Symptoms - More than 50% cases


Pica

Uncommon Symptoms - Between 30% and 50% cases


Intellectual disability

Common Symptoms - More than 50% cases


Short nose

Uncommon Symptoms - Between 30% and 50% cases


Global developmental delay

Common Symptoms - More than 50% cases


Intrauterine growth retardation

Uncommon Symptoms - Between 30% and 50% cases


Micrognathia Downslanted palpebral fissures Posteriorly rotated ears Cryptorchidism Short stature Microcephaly Hypertelorism Cleft palate Autosomal dominant inheritance Clinodactyly Autosomal recessive inheritance Postnatal growth retardation Hearing impairment Depressed nasal bridge Delayed speech and language development Low-set ears Deep philtrum Hernia Gastroesophageal reflux Small for gestational age Sandal gap Thin upper lip vermilion Inguinal hernia Prominent forehead Seizures Atrial septal defect Thin vermilion border Bilateral single transverse palmar creases Cataract Anteverted nares Sporadic Motor delay Microphthalmia Abnormality of cardiovascular system morphology Prominent nasal bridge Intellectual disability, moderate High palate Bulbous nose Polydactyly Muscular hypotonia Aggressive behavior Short middle phalanx of finger Intellectual disability, severe Wide nasal bridge Generalized hypotonia Long philtrum Hypoplasia of the corpus callosum Talipes equinovarus Finger syndactyly High forehead Ataxia Abnormality of the genital system Optic atrophy

Rare Symptoms - Less than 30% cases


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



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Frontal bossing and Round face, related diseases and genetic alterations