Abnormal facial shape, and Single transverse palmar crease

Diseases related with Abnormal facial shape and Single transverse palmar crease

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


Top matches:

Medium match MULTIPLE SYNOSTOSES SYNDROME


Multiple synostoses syndrome (MSS) is a rare developmental bone disorder characterized by proximal symphalangism of the fingers and/or toes often associated with fusion of carpal and tarsal, humeroradial, and cervical spine joints.

MULTIPLE SYNOSTOSES SYNDROME Is also known as wl syndrome|facio-audio-symphalangism|symphalangism-brachydactyly syndrome|deafness-hermann type symphalangism syndrome

Related symptoms:

  • Brachydactyly
  • Conductive hearing impairment
  • Joint stiffness
  • Facial asymmetry
  • Short palm


SOURCES: ORPHANET MENDELIAN

More info about MULTIPLE SYNOSTOSES SYNDROME

Medium match OROFACIAL CLEFT 15; OFC15


Related symptoms:

  • Hypertelorism
  • Abnormal facial shape
  • Cryptorchidism
  • Low-set ears
  • Epicanthus


SOURCES: OMIM MENDELIAN

More info about OROFACIAL CLEFT 15; OFC15

Medium match CONGENITAL LETHAL MYOPATHY, COMPTON-NORTH TYPE


Congenital lethal myopathy, Compton-North type is a rare, genetic, lethal, non-dystrophic congenital myopathy disorder characterized, antenatally, by fetal akinesia, intrauterine growth restriction and polyhydramnios, and, following birth, by severe neonatal hypotonia, severe generalized skeletal, bulbar and respiratory muscle weakness, multiple flexion contractures, and normal creatine kinase serum levels. Ultrastructurally, loss of integrin alpha7, beta2-syntrophin and alpha-dystrobrevin from the muscle sarcolemma and disruption of sarcomeres with disorganization of the Z band are observed.

Related symptoms:

  • Generalized hypotonia
  • Growth delay
  • Hypertelorism
  • Flexion contracture
  • High palate


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about CONGENITAL LETHAL MYOPATHY, COMPTON-NORTH TYPE

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Other less relevant matches:

Medium match MULTINUCLEATED NEURONS-ANHYDRAMNIOS-RENAL DYSPLASIA-CEREBELLAR HYPOPLASIA-HYDRANENCEPHALY SYNDROME


MARCH is an autosomal recessive lethal congenital disorder characterized by severe hydranencephaly with almost complete absence of the cerebral hemispheres, which are replaced by fluid, relative preservation of the posterior fossa structures, and renal dysplasia or agenesis. Affected fetuses either die in utero or shortly after birth, and show arthrogryposis and features consistent with anhydramnios. Histologic examination of residual brain tissue shows multinucleated neurons resulting from impaired cytokinesis (summary by Frosk et al., 2017).

MULTINUCLEATED NEURONS-ANHYDRAMNIOS-RENAL DYSPLASIA-CEREBELLAR HYPOPLASIA-HYDRANENCEPHALY SYNDROME Is also known as hydranencephaly with renal aplasia-dysplasia|march syndrome

Related symptoms:

  • Flexion contracture
  • Talipes equinovarus
  • Syndactyly
  • Clinodactyly
  • Clinodactyly of the 5th finger


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about MULTINUCLEATED NEURONS-ANHYDRAMNIOS-RENAL DYSPLASIA-CEREBELLAR HYPOPLASIA-HYDRANENCEPHALY SYNDROME

Medium match SHORT STATURE-OPTIC ATROPHY-PELGER-HUËT ANOMALY SYNDROME


Among the Yakuts, an Asian population isolate that is located in the northeastern part of Siberia, Maksimova et al. (2010) ascertained a short stature syndrome involving autosomal recessive postnatal growth failure, small hands and feet, loss of visual acuity with abnormalities of color vision, abnormal nuclear shape in neutrophil granulocytes (Pelger-Huet anomaly; see {169400}), and normal intelligence.

SHORT STATURE-OPTIC ATROPHY-PELGER-HUËT ANOMALY SYNDROME Is also known as soph syndrome

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Growth delay
  • Hypertelorism
  • Strabismus


SOURCES: OMIM ORPHANET MENDELIAN

More info about SHORT STATURE-OPTIC ATROPHY-PELGER-HUËT ANOMALY SYNDROME

Medium match ALAZAMI-YUAN SYNDROME; ALYUS


Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about ALAZAMI-YUAN SYNDROME; ALYUS

Medium match PROGEROID FEATURES-HEPATOCELLULAR CARCINOMA PREDISPOSITION SYNDROME


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

Medium match NEURODEVELOPMENTAL DISORDER WITH ATAXIC GAIT, ABSENT SPEECH, AND DECREASED CORTICAL WHITE MATTER; NDAGSCW


NDAGSCW is a neurodevelopmental disorder characterized by severely delayed psychomotor development apparent from infancy. Affected individuals have delayed and difficulty walking, intellectual disability, absent speech, and variable additional features, including hip dysplasia, tapering fingers, and seizures. Brain imaging shows decreased cortical white matter, often with decreased cerebellar white matter, thin corpus callosum, and thin brainstem (summary by Lamers et al., 2017).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about NEURODEVELOPMENTAL DISORDER WITH ATAXIC GAIT, ABSENT SPEECH, AND DECREASED CORTICAL WHITE MATTER; NDAGSCW

Medium match NEONATAL ADRENOLEUKODYSTROPHY


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

Medium match PEROXISOME BIOGENESIS DISORDER 3B; PBD3B


The overlapping phenotypes of neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD) represent the milder manifestations of the Zellweger syndrome spectrum (ZSS) of peroxisome biogenesis disorders. 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 PEX12 gene have cells of complementation group 3 (CG3). For information on the history of PBD complementation groups, see {214100}.

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about PEROXISOME BIOGENESIS DISORDER 3B; PBD3B

Top 5 symptoms//phenotypes associated to Abnormal facial shape and Single transverse palmar crease

Symptoms // Phenotype % cases
Generalized hypotonia Common - Between 50% and 80% cases
Strabismus Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Hypertelorism Growth delay Epicanthus Flexion contracture High palate Nystagmus Clinodactyly Visual impairment Muscular hypotonia Optic atrophy Cataract

Rare Symptoms - Less than 30% cases


High, narrow palate Long philtrum Delayed skeletal maturation Neonatal hypotonia Decreased liver function Dolichocephaly Retinal dystrophy Wide nasal bridge Thick eyebrow Seizures Hearing impairment Talipes equinovarus Syndactyly Sensorineural hearing impairment Hypermetropia Brachydactyly Areflexia Upslanted palpebral fissure Bilateral single transverse palmar creases Frontal bossing Low-set ears Facial asymmetry Bulbous nose Microcephaly Prominent nasal bridge Cryptorchidism Deeply set eye Abnormality of the skeletal system Skeletal muscle atrophy Ventriculomegaly Elbow flexion contracture Hypoplasia of the corpus callosum Kyphosis Dystonia Absent speech Micrognathia Pes cavus Neoplasm Curly eyelashes Gait ataxia Pain Pectus excavatum Spasticity Hepatocellular carcinoma Triangular face Lipodystrophy Abnormality of the pinna Premature graying of hair Hepatic failure Subcapsular cataract Carcinoma Pes planus Decreased body weight Posterior subcapsular cataract Thoracic kyphosis Down-sloping shoulders Thoracic kyphoscoliosis Fulminant hepatic failure Kyphoscoliosis Abdominal pain Difficulty walking Happy demeanor Unsteady gait Malar flattening Abnormal palate morphology Abnormality of neuronal migration Adrenal insufficiency Primary adrenal insufficiency Polar cataract Elevated long chain fatty acids Ataxia Failure to thrive Hepatomegaly Dysarthria Hyporeflexia Abnormality of retinal pigmentation Rod-cone dystrophy Osteoporosis Dry skin Flat face Polyneuropathy Abnormal bleeding Depressed nasal ridge Abnormal electroretinogram Steatorrhea Hypocholesterolemia Esodeviation Wide anterior fontanel Esotropia Tapered finger Bruxism Delayed myelination Hip dysplasia Cerebellar vermis hypoplasia Stereotypy Drooling Optic nerve hypoplasia Overlapping toe Poor eye contact Facial hypotonia Mild microcephaly Short columella Abnormality of movement Ptosis Hyperreflexia Macrocephaly Anteverted nares Abnormality of metabolism/homeostasis High forehead EEG abnormality Low-set, posteriorly rotated ears Developmental regression Abnormality of the liver Severe global developmental delay Unilateral cryptorchidism Delayed speech and language development Broad hallux Overlapping fingers Small for gestational age Arachnodactyly Decreased fetal movement Joint contracture of the hand Respiratory insufficiency due to muscle weakness Poor suck Akinesia Scaphocephaly Fetal akinesia sequence Oval face Polyhydramnios Clinodactyly of the 5th finger Cerebellar hypoplasia Polydactyly Arthrogryposis multiplex congenita Toe syndactyly Talipes Pulmonary hypoplasia Renal cyst Renal agenesis Oligohydramnios Camptodactyly Myopathy Renal dysplasia Protruding ear Joint stiffness Short palm Broad thumb Abnormality of the nail Cone-shaped epiphysis Symphalangism affecting the phalanges of the hand Midface retrusion Hernia Cleft lip Sparse eyelashes Hyponasal speech Sparse eyebrow Ectropion Bilateral cleft lip Bilateral cleft lip and palate High anterior hairline Ectropion of lower eyelids Euryblepharon Bilateral cleft palate Agenesis of lateral incisor Palate fistula Renal hypoplasia Finger clinodactyly Low anterior hairline Narrow mouth Dyschromatopsia Achromatopsia Prominent glabella Blue cone monochromacy Hyposegmentation of neutrophil nuclei Nonprogressive visual loss Feeding difficulties Conductive hearing impairment Hyperactivity Thin upper lip vermilion Sandal gap Synophrys Narrow chest Poor speech Hirsutism Highly arched eyebrow Prominent nose Underdeveloped nasal alae Wide intermamillary distance Dental crowding Long eyelashes Cutis laxa Fine hair Microretrognathia Myopia Hypoplasia of the brainstem 2-3 toe syndactyly Cystic hygroma Broad palm Redundant neck skin Hydranencephaly Narrow nasal ridge Limb joint contracture Potter facies Ureteral agenesis Short neck Narrow forehead Blindness Brachycephaly Reduced visual acuity Proptosis Postnatal growth retardation Micromelia Long face Thin vermilion border Small hand Progressive visual loss Very long chain fatty acid accumulation



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