Macrocephaly, and Single transverse palmar crease

Diseases related with Macrocephaly and Single transverse palmar crease

In the following list you will find some of the most common rare diseases related to Macrocephaly and Single transverse palmar crease that can help you solving undiagnosed cases.

Top matches:

Peroxisome biogenesis disorder-4B (PDB4B) includes the overlapping phenotypes of neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD), which represent milder manifestations of the Zellweger syndrome spectrum (ZSS) of peroxisome biogenesis disorders (PBDs). The clinical course of patients with the NALD and IRD presentation is variable and may include developmental delay, hypotonia, liver dysfunction, sensorineural hearing loss, retinal dystrophy, and visual impairment. Children with the NALD presentation may reach their teens, and those with the IRD presentation may reach adulthood (summary by Waterham and Ebberink, 2012).For a complete phenotypic description and a discussion of genetic heterogeneity of PBD(NALD/IRD), see {601539}.Individuals with mutations in the PEX6 gene have cells of complementation group 4 (CG4, equivalent to CG6 and CGC). For information on the history of PBD complementation groups, see {214100}.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM MENDELIAN

More info about PEROXISOME BIOGENESIS DISORDER 4B; PBD4B

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

DIARRHEA 3, SECRETORY SODIUM, CONGENITAL, WITH OR WITHOUT OTHER CONGENITAL ANOMALIES; DIAR3 Is also known as diarrhea 3, secretory sodium, congenital, syndromic|csd|sodium diarrhea, congenital

Related symptoms:

  • Short stature
  • Hypertelorism
  • Micrognathia
  • Cleft palate
  • Low-set ears


SOURCES: OMIM MENDELIAN

More info about DIARRHEA 3, SECRETORY SODIUM, CONGENITAL, WITH OR WITHOUT OTHER CONGENITAL ANOMALIES; DIAR3

Other less relevant matches:

FAMILIAL ADENOMATOUS POLYPOSIS DUE TO 5Q22.2 MICRODELETION Is also known as familial adenomatous polyposis due to del(5)(q22.2)|colorectal adenomatous polyposis due to monosomy 5q22.2|familial polyposis coli due to monosomy 5q22.2|familial adenomatous polyposis due to monosomy 5q22.2|fap due to monosomy 5q22.2

Related symptoms:


SOURCES: ORPHANET MENDELIAN

More info about FAMILIAL ADENOMATOUS POLYPOSIS DUE TO 5Q22.2 MICRODELETION

Medium match RIN2 SYNDROME

RIN2 syndrome, formerly known as macrocephaly, alopecia, cutis laxa and scoliosis (MACS) syndrome, is a very rare inherited connective tissue disorder characterized by macrocephaly, sparse scalp hair, soft-redundant and hyperextensible skin, joint hypermobility, and scoliosis. Patients have progressive facial coarsening with downslanted palpebral fissures, upper eyelid fullness/infraorbital folds, thick/everted vermillion, gingival overgrowth and abnormal position of the teeth. Rarer manifestations such as abnormal high-pitched voice, bronchiectasis, hypergonadotropic hypergonadism and brachydactyly (see this term) have also been reported.

RIN2 SYNDROME Is also known as rin2 deficiency|tall forehead, sparse hair, skin hyperextensibility, and scoliosis|tall forehead-sparse hair-skin hyperextensibility-scoliosis syndrome|macrocephaly-alopecia-cutis laxa-scoliosis syndrome|macs syndrome|macrocephaly, alopecia, cutis laxa, a

Related symptoms:

  • Intellectual disability
  • Short stature
  • Scoliosis
  • Muscular hypotonia
  • Cryptorchidism


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about RIN2 SYNDROME

An extremely rare and severe early-lethal form of Simpson-Golabi-Behmel syndrome. The disease is an overgrowth-multiple anomalies syndrome with characteristics of hydrops fetalis, macrocephaly, facial dysmorphism, short neck, redundant skin, skeletal defects (involving upper and lower limbs), hypoplastic nails, gastrointestinal and genitourinary anomalies, hypotonia and neurologic impairment. Severe intellectual disability, obesity and infections (pneumonia, sepsis) have been reported.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Hypertelorism
  • Abnormal facial shape


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 2; SGBS2

Medium match DESBUQUOIS SYNDROME

Desbuquois syndrome (DBQD) is an osteochondrodysplasia characterized by severe micromelic dwarfism, facial dysmorphism, joint laxity with multiple dislocations, vertebral and metaphyseal abnormalities and advanced carpotarsal ossification. Two forms have been distinguished on the basis of the presence (type 1) or the absence (type 2) of characteristic hand anomalies. A variant form of DBQD, Kim variant (see these terms), has also been described and is characterized by short stature and articular, minor facial and significant hand anomalies.

DESBUQUOIS SYNDROME Is also known as desbuquois dysplasia|dbqd

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Growth delay


SOURCES: OMIM ORPHANET MENDELIAN

More info about DESBUQUOIS SYNDROME

Adams-Oliver syndrome-2 is an autosomal recessive multiple congenital anomaly syndrome characterized by aplasia cutis congenita (ACC) and terminal transverse limb defects, in association with variable involvement of the brain, eyes, and cardiovascular systems (summary by Shaheen et al., 2011).For a discussion of genetic heterogeneity of Adams-Oliver syndrome, see AOS1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about ADAMS-OLIVER SYNDROME 2; AOS2

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

Ehlers-Danlos syndrome, progeroid type (EDS-PF) is a form of Ehlers-Danlos syndrome characterized by a premature aging with sparse hair, macrocephaly, loose elastic skin, failure to thrive, joint laxity, psychomotor retardation, hypotonia, and defective wound healing with atrophic scars.

EHLERS-DANLOS SYNDROME, PROGEROID TYPE Is also known as pds, defective biosynthesis of|ehlers-danlos syndrome with short stature and limb anomalies|edsp1, formerly|eds, progeroid type|xgpt deficiency|dermatan sulfate proteoglycan|proteodermatan sulfate, defective biosynthesis of|edssla|xylosylprotein 4-beta-ga

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about EHLERS-DANLOS SYNDROME, PROGEROID TYPE

Top 5 symptoms//phenotypes associated to Macrocephaly 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
Generalized hypotonia Common - Between 50% and 80% cases
Low-set ears Common - Between 50% and 80% cases
Epicanthus Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Hypertelorism Abnormal facial shape Short stature Cleft palate Muscular hypotonia Joint laxity High palate Micrognathia Blue sclerae Joint hyperflexibility Seizures Wide nasal bridge Pectus excavatum Anteverted nares Clinodactyly Short neck Cutis laxa Growth delay Scoliosis Hernia Alopecia Pes planus Posteriorly rotated ears Depressed nasal bridge Pectus carinatum Hearing impairment Visual impairment Short nose Optic atrophy

Rare Symptoms - Less than 30% cases

Hyperextensible skin Respiratory tract infection Thin upper lip vermilion Abnormality of skin pigmentation Inguinal hernia Obesity Gait disturbance Talipes equinovarus Generalized osteoporosis Microphthalmia Depressivity Tapered finger Sparse and thin eyebrow Sparse scalp hair Everted lower lip vermilion Thick vermilion border Hirsutism Bruising susceptibility Joint hypermobility Coarse facial features Osteoporosis Dilatation Long philtrum Pulmonic stenosis Small nail Wide intermamillary distance Coxa valga Delayed speech and language development Flexion contracture Abnormality of the nervous system Microcephaly Advanced ossification of carpal bones Genu recurvatum Short clavicles Elbow dislocation Radioulnar synostosis Cataract Accelerated skeletal maturation Flat face Brachydactyly Ataxia Narrow chest Nystagmus Failure to thrive Proptosis Severe short stature Clinodactyly of the 5th finger Sensorineural hearing impairment Abnormality of the dentition Short finger Broad thumb Downslanted palpebral fissures Aortic valve stenosis Cognitive impairment Abnormality of metabolism/homeostasis Cryptorchidism Syndactyly Adrenal insufficiency Bifid uvula Wide anterior fontanel Decreased liver function Abnormality of the liver Low-set, posteriorly rotated ears Dolichocephaly Frontal bossing Retinal dystrophy Strabismus Ulnar bowing Flat forehead High-pitched cry Absent earlobe Cutis marmorata telangiectatica congenita Adactyly Deeply set eye Retinal nonattachment Talipes equinovalgus Agenesis of corpus callosum Forearm undergrowth Hypertension Muscular hypotonia of the trunk Retrocerebellar cyst Dermal translucency Long toe Poor wound healing Behavioral abnormality Cerebellar hypoplasia Hypospadias Abnormal heart morphology Patent ductus arteriosus Hyperactivity Gait ataxia Autism Macrotia Prominent scalp veins Abnormality of primary teeth Retinal fold Lymphedema Facial wrinkling Congenital cataract Polymicrogyria Bulbous nose Phalangeal dislocation Short distal phalanx of finger Retinal detachment Short foot Gliosis Testicular torsion Oligohydramnios Low anterior hairline Protruding ear Narrow palpebral fissure Cerebral palsy Slender toe Dermal atrophy Cutis marmorata Soft, doughy skin Aplasia cutis congenita Anxiety Corpus callosum atrophy Periventricular leukomalacia Large joint dislocations Aplasia cutis congenita of scalp Gastroesophageal reflux Intellectual disability, moderate Small face Thin skin Lipodystrophy Subvalvular aortic stenosis Sparse eyelashes Six lumbar vertebrae Motor delay Skeletal muscle atrophy Joint dislocation Intellectual disability, mild Midface retrusion Abnormality of cardiovascular system morphology Prominent forehead Elbow flexion contracture Bowing of the long bones Fine hair Shallow orbits Cutaneous photosensitivity Narrow mouth Kyphoscoliosis Congenital diaphragmatic hernia Osteopenia Skeletal dysplasia Nevus Telecanthus Scarring Triangular face Microtia Broad forehead Arachnodactyly Hypermetropia Broad face Bipolar affective disorder Aggressive behavior Curly hair Cleft lip Attention deficit hyperactivity disorder Short philtrum Prominent nasal bridge Varicose veins Progeroid facial appearance Mild global developmental delay Small for gestational age Periodontitis Atypical scarring of skin Gingivitis Facial asymmetry Oral cleft Proportionate short stature Atrophic scars Nasal speech Long face Bowing of the legs Bilateral cryptorchidism Prominent nose Psychosis Pulmonary arterial hypertension Dental crowding Stereotypy Anorexia Sparse eyebrow Aspiration Narrow face Horseshoe kidney Sandal gap Ptosis Short long bone Cerebral atrophy Umbilical hernia Abnormality of digit Corneal erosion Optic nerve coloboma Rectovaginal fistula Villous atrophy Ureteral duplication Protracted diarrhea Secretory diarrhea Intractable diarrhea Abnormality of the cerebral white matter Neonatal hypotonia Hypogonadism Retrognathia Rod-cone dystrophy Preauricular pit Sparse hair Ichthyosis Overgrowth Narrow forehead High myopia Thick lower lip vermilion Decreased body weight Bronchiectasis Gingival overgrowth Hypergonadotropic hypogonadism Redundant skin Increased susceptibility to fractures Aortic aneurysm Premature ovarian insufficiency Mild short stature Keratitis Prolonged bleeding time Primary adrenal insufficiency Hyperreflexia Ureterocele High forehead EEG abnormality Developmental regression Severe global developmental delay Abnormality of movement High, narrow palate Esotropia Abnormality of retinal pigmentation Bilateral single transverse palmar creases Abnormal palate morphology Abnormality of neuronal migration Polar cataract Hyponatremia Elevated long chain fatty acids Decreased nerve conduction velocity Vomiting Diarrhea Acidosis Polyhydramnios Toe syndactyly Anal atresia Metabolic acidosis Abdominal distention Intestinal malrotation Gastrointestinal hemorrhage Choanal atresia Abnormal intestine morphology High pitched voice Abnormality of the sternum Hypertonia Short femoral neck Hypotrichosis Synophrys Small hand Round face Short metacarpal Abnormality of the metaphysis Short phalanx of finger Coxa vara Disproportionate short-limb short stature Relative macrocephaly Metaphyseal widening Epiphyseal dysplasia Acne Truncal obesity Camptodactyly of finger Abnormal eyelash morphology Broad foot Patellar dislocation Bell-shaped thorax Broad ribs Aplasia/Hypoplasia of the abdominal wall musculature Toe clinodactyly Knee dislocation Abnormality of the femoral neck or head region Spasticity Intrauterine growth retardation Ventriculomegaly Hypoplasia of the corpus callosum Hydrocephalus Hip dislocation Postnatal growth retardation Palpebral edema Congenital hip dislocation Abnormality of the vasculature Eclabion Urethral stenosis Irregular dentition Abnormal lip morphology Upper eyelid edema Infra-orbital fold Intellectual disability, severe Pneumonia Hepatomegaly Micropenis Wide mouth Wide nose Multicystic kidney dysplasia Glaucoma Intellectual disability, progressive Recurrent upper respiratory tract infections Deep philtrum Radial deviation of finger Broad palm Hyperactive deep tendon reflexes Scaphocephaly Thickened nuchal skin fold Abnormality of the rib cage U-Shaped upper lip vermilion Facial capillary hemangioma Peripheral neuropathy Ventricular septal defect Respiratory distress Palmoplantar cutis gyrata


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