Abnormal facial shape, and Decreased testicular size

Diseases related with Abnormal facial shape and Decreased testicular size

In the following list you will find some of the most common rare diseases related to Abnormal facial shape and Decreased testicular size that can help you solving undiagnosed cases.


Top matches:

Medium match XQ27.3Q28 DUPLICATION SYNDROME


Xq27.3q28 duplication syndrome is a recently described syndrome characterized by short stature, hypogonadism, developmental delay and facial dysmorphism.

XQ27.3Q28 DUPLICATION SYNDROME Is also known as trisomy xq27.3q28|dup(x)(q27.3q28)|xq27.3-q28 microduplication syndrome|trisomy xq27.3-q28

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about XQ27.3Q28 DUPLICATION SYNDROME

Medium match X-LINKED INTELLECTUAL DISABILITY, SIDERIUS TYPE


X-linked intellectual disability, Siderius type is characterised by mild to borderline intellectual deficit associated with cleft lip/palate. Preaxial polydactyly, large hands and cryptorchidism are sometimes present. The syndrome has been described in seven boys from two families. Transmission is X-linked and the syndrome is caused by mutations in the PHF8 gene, localised to the p11.21 region of the X chromosome.

X-LINKED INTELLECTUAL DISABILITY, SIDERIUS TYPE Is also known as siderius-hamel syndrome|mental retardation, x-linked, syndromic, siderius type

Related symptoms:

  • Intellectual disability
  • Scoliosis
  • Cleft palate
  • Cryptorchidism
  • Delayed speech and language development


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY, SIDERIUS TYPE

Medium match HYPOGONADOTROPIC HYPOGONADISM 1 WITH OR WITHOUT ANOSMIA; HH1


Congenital idiopathic hypogonadotropic hypogonadism (IHH) is a disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. Idiopathic hypogonadotropic hypogonadism can be caused by an isolated defect in gonadotropin-releasing hormone (GNRH ) release, action, or both. Other associated nonreproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss, occur with variable frequency. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism has been called 'Kallmann syndrome (KS),' whereas in the presence of a normal sense of smell, it has been termed 'normosmic idiopathic hypogonadotropic hypogonadism (nIHH)' (summary by Raivio et al., 2007). Because families have been found to segregate both KS and nIHH, the disorder is here referred to as 'hypogonadotropic hypogonadism with or without anosmia.'For information on the autosomal forms of hypogonadotropic hypogonadism with or without anosmia, see {147950}.

HYPOGONADOTROPIC HYPOGONADISM 1 WITH OR WITHOUT ANOSMIA; HH1 Is also known as anosmic hypogonadism|hha|kallmann syndrome 1|dysplasia olfactogenitalis of de morsier|hypogonadotropic hypogonadism and anosmia|kms|kal1

Related symptoms:

  • Hearing impairment
  • Ataxia
  • Sensorineural hearing impairment
  • Cleft palate
  • Cryptorchidism


SOURCES: ORPHANET OMIM MENDELIAN

More info about HYPOGONADOTROPIC HYPOGONADISM 1 WITH OR WITHOUT ANOSMIA; HH1

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Other less relevant matches:

Medium match MOYAMOYA ANGIOPATHY-SHORT STATURE-FACIAL DYSMORPHISM-HYPERGONADOTROPIC HYPOGONADISM SYNDROME


Moyamoya angiopathy - short stature - facial dysmorphism - hypergonadotropic hypogonadism is a very rare, hereditary, neurological, dysmorphic syndrome characterized by moyamoya disease, short stature of postnatal onset, and stereotyped facial dysmorphism.

MOYAMOYA ANGIOPATHY-SHORT STATURE-FACIAL DYSMORPHISM-HYPERGONADOTROPIC HYPOGONADISM SYNDROME Is also known as syndromic moyamoya disease|moyamoya disease-short stature-facial dysmorphism-hypergonadotropic hypogonadism|chromosome xq28 deletion syndrome, 3.4-kb

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Hypertelorism
  • Abnormal facial shape


SOURCES: ORPHANET OMIM MENDELIAN

More info about MOYAMOYA ANGIOPATHY-SHORT STATURE-FACIAL DYSMORPHISM-HYPERGONADOTROPIC HYPOGONADISM SYNDROME

Medium match DWARFISM WITH TALL VERTEBRAE


Related symptoms:

  • Short stature
  • Depressed nasal bridge
  • Intrauterine growth retardation
  • Frontal bossing
  • Abnormality of the skeletal system


SOURCES: OMIM MENDELIAN

More info about DWARFISM WITH TALL VERTEBRAE

Medium match WILSON-TURNER SYNDROME


Wilson-Turner syndrome (WTS) is a very rare X-linked multisystem genetic disease characterized by intellectual disability, truncal obesity, gynecomastia, hypogonadism, dysmorphic facial features, and short stature.

WILSON-TURNER SYNDROME Is also known as wts|mental retardation, x-linked, with gynecomastia and obesity|mrxs6|mental retardation, x-linked, syndromic 6|x-linked intellectual disability-gynecomastia-obesity syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about WILSON-TURNER SYNDROME

Medium match AUTOSOMAL DOMINANT KENNY-CAFFEY SYNDROME


Kenny-Caffey syndrome is characterized by severe proportionate short stature, cortical thickening and medullary stenosis of the tubular bones, delayed closure of the anterior fontanel, eye abnormalities, and transient hypocalcemia. Patients with autosomal dominant KCS type 2 have normal intelligence (Kenny and Linarelli, 1966; Caffey, 1967; summary by Isojima et al., 2014).See KCS1 (OMIM ) for a discussion of an autosomal recessive form of Kenny-Caffey syndrome.

AUTOSOMAL DOMINANT KENNY-CAFFEY SYNDROME Is also known as kenny syndrome|dwarfism, cortical thickening of tubular bones, and transient hypocalcemia

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Growth delay
  • Hypertelorism


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL DOMINANT KENNY-CAFFEY SYNDROME

Medium match SYNDROMIC X-LINKED INTELLECTUAL DISABILITY DUE TO JARID1C MUTATION


Syndromic X-linked intellectual disability due to JARID1C mutation is characterised by mild to severe intellectual deficit associated with variable clinical manifestations including spasticity, cryptorchidism, maxillary hypoplasia, alopecia areata, epilepsy, short stature, impaired speech and behavioural problems. To date, it has been described in less than 15 families. Transmission is X-linked recessive and the syndrome is caused by mutations in the JARID1C (SMCX) gene encoding a JmjC-domain protein with histone demethylase activity.

SYNDROMIC X-LINKED INTELLECTUAL DISABILITY DUE TO JARID1C MUTATION Is also known as mental retardation, x-linked, syndromic, jarid1c-related|mrxsj

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about SYNDROMIC X-LINKED INTELLECTUAL DISABILITY DUE TO JARID1C MUTATION

Medium match CARDIOSPONDYLOCARPOFACIAL SYNDROME


Cardiospondylocarpofacial syndrome is characterized by mitral insufficiency, conductive deafness, short stature, and skeletal anomalies (bony fusion involving the cervical vertebrae, the ossicles, and the carpal and tarsal bones). It has been described in three members of one family. The mode of inheritance is likely to be autosomal dominant with incomplete penetrance.

CARDIOSPONDYLOCARPOFACIAL SYNDROME Is also known as forney-robinson-pascoe syndrome|mitral regurgitation-deafness-skeletal anomalies syndrome|forney syndrome|mitral regurgitation, conductive deafness, and fusion of cervical vertebrae and of carpal and tarsal bones

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis
  • Growth delay


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about CARDIOSPONDYLOCARPOFACIAL SYNDROME

Medium match CORNELIA DE LANGE SYNDROME 5; CDLS5


Cornelia de Lange syndrome is a clinically heterogeneous developmental disorder characterized by malformations affecting multiple systems. Affected individuals have dysmorphic facial features, cleft palate, distal limb defects, growth retardation, and developmental delay. About 60% of patients have mutations in the NIPBL gene (OMIM ) on chromosome 5p13 (CDLS1 ), and about 4 to 6% of patients have mutations in the X-linked SMC1A gene (OMIM ) (CDLS2 ) (summary by Musio et al., 2006, Hoppman-Chaney et al., 2012).For a general phenotypic description and a discussion of genetic heterogeneity of Cornelia de Lange syndrome, see {122470}.

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about CORNELIA DE LANGE SYNDROME 5; CDLS5

Top 5 symptoms//phenotypes associated to Abnormal facial shape and Decreased testicular size

Symptoms // Phenotype % cases
Short stature Common - Between 50% and 80% cases
Cryptorchidism Common - Between 50% and 80% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Hypogonadism Uncommon - Between 30% and 50% cases
Short foot Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Abnormal facial shape and Decreased testicular size. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Seizures Global developmental delay Deeply set eye Gynecomastia Small hand Long philtrum Delayed speech and language development Delayed skeletal maturation Hypertelorism Micropenis Growth delay Generalized hypotonia Hearing impairment Retrognathia Prominent supraorbital ridges High palate Anteverted nares Broad nasal tip Severe short stature Cleft lip Pes planus Upslanted palpebral fissure Cataract Cleft palate Microcephaly Intrauterine growth retardation Hypermetropia Small for gestational age Myopia Obesity Truncal obesity Micrognathia Postnatal growth retardation Failure to thrive

Rare Symptoms - Less than 30% cases


Feeding difficulties Short palm Abnormality of the dentition Ptosis Gastroesophageal reflux Misalignment of teeth Telecanthus Wide nose High, narrow palate Macrocephaly Depressed nasal bridge Tapered finger Thick eyebrow Strabismus Hypogonadotrophic hypogonadism Absent speech Cognitive impairment Brachycephaly Brachydactyly Thin upper lip vermilion Poor speech Mandibular prognathia Microtia Clinodactyly of the 5th finger Pectus excavatum Prominent nasal bridge Short neck Azoospermia Delayed cranial suture closure Oral cleft Abnormality of the eye Autism Large hands Scoliosis High pitched voice Hypergonadotropic hypogonadism Synophrys Bulbous nose Thin vermilion border Intellectual disability, mild Pes cavus Specific learning disability Muscular hypotonia Delayed puberty Highly arched eyebrow Low anterior hairline Abnormality of the medullary cavity of the long bones Long eyelashes Hypoparathyroidism Spasticity Nevus Papilledema Hyperreflexia Hypocalcemic seizures Talipes equinovarus Widely spaced teeth Clinodactyly Babinski sign Proportionate short stature Macrotia Aggressive behavior Intellectual disability, moderate Protruding ear Downturned corners of mouth Intellectual disability, severe Proximal placement of thumb Abnormal circulating follicle-stimulating hormone level Stenosis of the medullary cavity of the long bones Hypocalcemic tetany Thickened cortex of long bones Persistence of primary teeth Nevus flammeus Congenital hypoparathyroidism Postnatal macrocephaly Cortical thickening of long bone diaphyses Thin long bone diaphyses Bilateral microphthalmos Cutis marmorata Calvarial osteosclerosis Retinal calcification Delayed closure of the anterior fontanelle Tetany Decreased skull ossification Transient hypophosphatemia Limited elbow extension Hyperphosphatemia Cone-shaped epiphysis Camptodactyly of finger Hirsutism Posteriorly rotated ears Carpal synostosis Synostosis of carpal bones Diastema Alopecia areata Lower limb hypertonia Low frustration tolerance Basal ganglia calcification Talipes calcaneovarus Freckling Wide nasal bridge Conductive hearing impairment Rib fusion Joint laxity Abnormal cardiac septum morphology Full cheeks Vesicoureteral reflux Mitral valve prolapse Recurrent otitis media Tarsal synostosis Abnormal form of the vertebral bodies Congenital sensorineural hearing impairment Mitral regurgitation Severe failure to thrive Furrowed tongue Horseshoe kidney Hypoplasia of the maxilla Toe syndactyly Feeding difficulties in infancy Ventriculomegaly Spastic paraplegia Paraplegia Failure of eruption of permanent teeth Smooth philtrum Falls Synostosis of carpals/tarsals Short distal phalanx of finger Interphalangeal joint contracture of finger Shuffling gait Decreased body weight Intellectual disability, progressive Lower limb hyperreflexia Progressive spastic paraplegia Pseudoepiphyses Multiple cafe-au-lait spots Restlessness Delayed ossification of carpal bones Fused cervical vertebrae Facial hypotonia Distal lower limb amyotrophy Small forehead Hypoplastic pelvis High hypermetropia Microphallus Renal agenesis Hypotelorism Holoprosencephaly Anosmia Unilateral renal agenesis Bilateral cryptorchidism Anodontia Sparse pubic hair Hyposmia Abnormal renal morphology Testicular atrophy Facial asymmetry Bimanual synkinesia Bilateral renal agenesis Eunuchoid habitus Alobar holoprosencephaly Decreased circulating luteinizing hormone level Olfactory lobe agenesis Hypothalamic gonadotropin-releasing hormone deficiency Decreased circulating follicle stimulating hormone level Leydig cell insensitivity to gonadotropin Total anosmia Low-set ears Ichthyosis Abnormality of eye movement Cardiomyopathy Cleft upper lip Neonatal hypotonia Premature ovarian insufficiency Sparse body hair Increased circulating gonadotropin level Decreased serum testosterone level Abdominal obesity Primary testicular failure Atrial septal defect Polydactyly Autistic behavior Long face Sensorineural hearing impairment Sloping forehead Low posterior hairline Nasal speech Preaxial polydactyly Preaxial hand polydactyly Slender finger Thoracic kyphosis Bilateral cleft lip Bilateral cleft lip and palate Long toe Ataxia Hypertension Congestive heart failure Hypocalcemia Anemia Slender long bone Short 5th finger Increased vertebral height Kyphosis Neurological speech impairment Emotional lability Decreased muscle mass Malar prominence Uplifted earlobe Short ear Flexion contracture Spina bifida occulta Edema Microphthalmia Prominent forehead Abnormality of the liver Congenital cataract Carious teeth Infertility Neutropenia High myopia Small nail Increased bone mineral density Short thorax Scapular winging Stroke Abnormal hand morphology Dilated cardiomyopathy Growth hormone deficiency Short phalanx of finger Cerebral hemorrhage Premature graying of hair Stroke-like episode Abnormal left ventricle morphology Congenital ptosis Broad finger Abnormality of the nares Moyamoya phenomenon Coxa vara Frontal bossing Abnormality of the skeletal system Malar flattening Hypospadias Hyperlordosis Hip dislocation Dolichocephaly Joint hypermobility Triangular face Short ribs Pointed chin Happy demeanor



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Rod-cone dystrophy and Sparse and thin eyebrow, related diseases and genetic alterations Hyperreflexia and Broad nasal tip, related diseases and genetic alterations Skeletal muscle atrophy and Syncope, related diseases and genetic alterations Flexion contracture and Blue sclerae, related diseases and genetic alterations Abnormal facial shape and Leukoencephalopathy, related diseases and genetic alterations

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