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:

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:

  • Failure to thrive
  • Epicanthus
  • Hepatomegaly
  • Frontal bossing
  • Depressivity


SOURCES: MESH OMIM MENDELIAN

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

Ruijs et al. (2003) reported a Moroccan boy with a chromosomal breakage who died of hepatocellular carcinoma at age 17 years. The boy was noted to have growth retardation at age 3 years; at age 7 he was found to have thoracic kyphosis, frontal bossing, and a delayed bone age of approximately 3 years. He underwent surgery for severe bilateral posterior subcapsular cataracts at age 14. Examination at age 15 showed short stature and low weight, with premature graying of scalp hair, small frontotemporal diameter, small deep-set eyes, bulbous nose with high nasal bridge, small upper lip, and micrognathia. In addition, he had thoracic kyphoscoliosis, sloping shoulders, mild pectus excavatum, moderate bilateral contractures of both elbows, bilateral clinodactyly, and pes planus. At age 17, he developed abdominal pain, and ultrasonography revealed a liver mass; biopsy confirmed hepatocellular carcinoma. Because of the advanced stage, no treatment was possible, and he died 2 months later. Although his parents were not known to be consanguineous, they originated from the same small Moroccan village.Lessel et al. (2014) studied 2 brothers from a nonconsanguineous Australian family of European ancestry who exhibited low body weight, micrognathia, triangular face, muscular atrophy, lipodystrophy, bilateral simian creases, delayed bone age, and mild joint restrictions in the fingers and elbows. In addition, both brothers developed early-onset hepatocellular carcinoma, at ages 16 and 14 years, respectively. The older brother died at age 18 from complications of acute fulminant hepatic failure. Analysis of patient tumor biopsies showed strong focal accumulations of cancer biomarkers as well as a high proliferative index compared to healthy liver or to cells from idiopathic hepatocellular carcinoma.

PROGEROID FEATURES-HEPATOCELLULAR CARCINOMA PREDISPOSITION SYNDROME Is also known as ruijs-aalfs syndrome

Related symptoms:

  • Short stature
  • Growth delay
  • Neoplasm
  • Micrognathia
  • Pain


SOURCES: ORPHANET OMIM MENDELIAN

More info about PROGEROID FEATURES-HEPATOCELLULAR CARCINOMA PREDISPOSITION SYNDROME

Neonatal adrenoleukodystrophy (NALD) is the variant of intermediate severity of the PBD-Zellweger syndrome spectrum (PBD-ZSS; see this term), charcterized by hypotonia, leukodystrophy, and vision and sensorineural hearing deficiencies. Phenotypic overlap is seen between NALD and infantile Refsum disease (IRD) (see this term).

NEONATAL ADRENOLEUKODYSTROPHY Is also known as nald

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: OMIM ORPHANET MENDELIAN

More info about NEONATAL ADRENOLEUKODYSTROPHY

Other less relevant matches:

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.

CONGENITAL BILE ACID SYNTHESIS DEFECT TYPE 4 Is also known as 2-methylacyl-coa racemase deficiency|amacr deficiency|basd4|alpha-methyl-acyl-coa racemase deficiency|liver disease-retinitis pigmentosa-polyneuropathy-epilepsy syndrome

Related symptoms:

  • Seizures
  • Global developmental delay
  • Ataxia
  • Cataract
  • Spasticity


SOURCES: OMIM ORPHANET MENDELIAN

More info about CONGENITAL BILE ACID SYNTHESIS DEFECT TYPE 4

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

Related symptoms:

  • Intellectual disability
  • Growth delay
  • Cleft palate
  • Low-set ears
  • High palate


SOURCES: OMIM MENDELIAN

More info about MICROPHTHALMIA WITH LIMB ANOMALIES; MLA

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Failure to thrive
  • Micrognathia


SOURCES: OMIM MENDELIAN

More info about MEIER-GORLIN SYNDROME 6; MGORS6

High match MONOSOMY 13Q14

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.

MONOSOMY 13Q14 Is also known as del(13)(q14)|chromosome 13q deletion syndrome|deletion 13q14

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about MONOSOMY 13Q14

High match FILIPPI SYNDROME

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.

FILIPPI SYNDROME Is also known as scott craniodigital syndrome with mental retardation|syndactyly, type i, with microcephaly and mental retardation|type 1 syndactyly-microcephaly-intellectual disability syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about FILIPPI SYNDROME

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

3Q29 MICRODELETION SYNDROME Is also known as del(3)(q29)|microdeletion 3q29 syndrome|3q subtelomere deletion syndrome|monosomy 3q29|monosomy 3qter|3qter deletion

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Microcephaly
  • Ataxia
  • Failure to thrive


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about 3Q29 MICRODELETION SYNDROME

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:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: OMIM MENDELIAN

More info about COFFIN-SIRIS SYNDROME 6; CSS6

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

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Epicanthus Common - Between 50% and 80% cases
Micrognathia Common - Between 50% and 80% cases
Failure to thrive Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Short stature Abnormal facial shape High palate High forehead Clinodactyly Cleft palate Downslanted palpebral fissures Cataract Short nose Growth delay Seizures Hearing impairment Thin upper lip vermilion Prominent nasal bridge Low-set ears Hernia Intrauterine growth retardation Delayed speech and language development Posteriorly rotated ears Generalized hypotonia Clinodactyly of the 5th finger Optic atrophy Finger clinodactyly Muscular hypotonia Short philtrum Visual impairment Wide nasal bridge Cryptorchidism Anteverted nares Deep philtrum Bilateral single transverse palmar creases Hypertelorism Depressed nasal bridge Microcephaly Short middle phalanx of finger Small for gestational age Microphthalmia Prominent forehead Sandal gap Brachydactyly Gastroesophageal reflux Depressivity Delayed skeletal maturation Abnormality of the liver Pectus excavatum Bulbous nose

Rare Symptoms - Less than 30% cases

Attention deficit hyperactivity disorder Sparse hair Anxiety Aggressive behavior Conductive hearing impairment Broad forehead Intellectual disability, moderate Cholestasis Gait ataxia Thick vermilion border Horseshoe kidney Underdeveloped nasal alae Hip dysplasia Atrial septal defect Stereotypy Respiratory tract infection Severe short stature Hyperactivity Wide mouth Toe syndactyly Hip dislocation Postnatal growth retardation Cleft lip Retrognathia Polydactyly Fat malabsorption Syndactyly Ataxia Small nail Talipes equinovarus High anterior hairline Feeding difficulties Motor delay Midface retrusion Hypergonadotropic hypogonadism Hepatomegaly Spasticity Tapered finger Ptosis Supernumerary nipple Decreased body weight Hypoplasia of the corpus callosum Strabismus Ventricular septal defect Cognitive impairment Intellectual disability, severe Macrocephaly Kyphoscoliosis Cirrhosis Long philtrum Low-set, posteriorly rotated ears Everted lower lip vermilion Dolichocephaly High, narrow palate Thin vermilion border Anteverted ears Finger syndactyly Muscular hypotonia of the trunk Thick eyebrow Hepatic failure Wide anterior fontanel Iris coloboma Short chin Specific learning disability Microdontia Ambiguous genitalia Postnatal microcephaly Generalized hirsutism Long eyelashes Hypertrichosis Fine hair Webbed neck Hypodontia Limitation of joint mobility Leukocoria Wide nose Proptosis Retinoblastoma Thickened helices Cerebellar atrophy Abnormality of the gastrointestinal tract Aplasia/Hypoplasia of the thumb Hypertonia Absent septum pellucidum Dystonia Brachycephaly Trigonocephaly Hirsutism Patent foramen ovale Abnormal dermatoglyphics Holoprosencephaly Open mouth Neurological speech impairment Abnormality of the skeletal system Synophrys Hypotelorism Paraplegia Smooth philtrum Cutaneous syndactyly Posterior subcapsular cataract Widely spaced teeth Bipolar affective disorder Constipation Absent speech Six lumbar vertebrae Subvalvular aortic stenosis Broad face Shallow orbits Nasal speech Short distal phalanx of finger Narrow face Aspiration Aortic valve stenosis Anorexia Dental crowding Pulmonary arterial hypertension Coarse facial features Small hand Prominent nose Abnormality of the hand Diaphragmatic eventration Periventricular leukomalacia Tics Large forehead Arachnoid cyst Infantile spasms Plagiocephaly Short foot Narrow palpebral fissure Wormian bones Sparse scalp hair Thick lower lip vermilion Dandy-Walker malformation Broad nasal tip Delayed eruption of teeth Psychosis Long face Mutism Low hanging columella Aplastic/hypoplastic toenail Narrow naris Congenital microcephaly Cutaneous syndactyly of toes Broad columella Echolalia Limb hypertonia Enlarged epiphyses Limb dystonia Cutaneous finger syndactyly Abnormality of digit Narrow nasal bridge Aphasia Dysphasia Clinodactyly of the 5th toe Frontal hirsutism Abnormality of skin pigmentation Macrotia Oral cleft Joint hyperflexibility Facial asymmetry Pulmonic stenosis Pectus carinatum Joint laxity Autism 2-4 toe syndactyly Inguinal hernia Patent ductus arteriosus Hypospadias Behavioral abnormality Abnormality of the dentition Gait disturbance Hypertension Narrow nose Entropion Coloboma Distal sensory impairment Vomiting Headache Encephalopathy Rod-cone dystrophy Hypogonadism Photophobia Mental deterioration Irritability Retinopathy Confusion Unsteady gait Peripheral axonal neuropathy Nausea Sensory neuropathy Dysarthria Polyneuropathy Coma Sensory impairment Migraine Pigmentary retinopathy Type II diabetes mellitus Status epilepticus Intention tremor Hemiparesis Sensorimotor neuropathy Paraparesis Spastic paraparesis Apathy Agitation Tremor Peripheral neuropathy Iris hypopigmentation Pes planus Down-sloping shoulders Thoracic kyphoscoliosis Fulminant hepatic failure Hepatocellular carcinoma Subcapsular cataract Premature graying of hair Lipodystrophy Elbow flexion contracture Nystagmus Sensorineural hearing impairment Triangular face Carcinoma Deeply set eye Hyperreflexia Abdominal pain Elevated long chain fatty acids Abnormality of metabolism/homeostasis EEG abnormality Developmental regression Severe global developmental delay Abnormality of movement Retinal dystrophy Esotropia Abnormality of retinal pigmentation Decreased liver function Abnormal palate morphology Abnormality of neuronal migration Adrenal insufficiency Primary adrenal insufficiency Polar cataract Atrophy/Degeneration affecting the brainstem Biliary tract abnormality Protruding ear Stenosis of the external auditory canal Hyperlordosis Microtia Hepatitis Delayed puberty Delayed myelination Growth hormone deficiency Lumbar hyperlordosis Depressed nasal ridge Microretrognathia Laryngomalacia Emphysema Cortical gyral simplification Tracheomalacia Hypoplastic labia majora Recurrent respiratory infections Patellar aplasia Thoracic kyphosis Bronchomalacia Subglottic stenosis Tracheobronchomalacia Nasogastric tube feeding Malabsorption Short neck Abnormality of cardiovascular system morphology Abnormal heart morphology Elevated hepatic transaminase Micropenis Jaundice Hydronephrosis Umbilical hernia Hyperbilirubinemia Kyphosis Intrahepatic cholestasis Skeletal muscle atrophy Flexion contracture Pain Neoplasm Giant cell hepatitis Blepharophimosis Cleft upper lip Postaxial hand polydactyly Abnormality of the cardiovascular system Short palpebral fissure Split hand Abnormal vertebral morphology Abnormality of the hair Hemivertebrae Prolonged neonatal jaundice Abnormality of the coagulation cascade Anophthalmia Tibial bowing Oligodactyly Fibular hypoplasia Postaxial foot polydactyly Short femur Abnormal renal morphology Hand oligodactyly Flared nostrils Foot oligodactyly Metacarpal synostosis Camptodactyly of 2nd-5th fingers Fused fourth and fifth metacarpals Steatorrhea Testicular torsion


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